Omani Family Research Articles

Predictors of Quality of Life Among Omani Family Caregivers of Patients With Traumatic Brain Injury.

This study aimed to explore the quality of life (QoL) of Omani family caregivers (FCs) of patients with traumatic brain injury (TBI). After acute care, the burden of caring for patients with TBI is mainly shouldered by FCs. This cross-sectional study was conducted at Khoula Hospital, Muscat, Oman. Patient data were collected at the time of discharge and 8 weeks post-discharge between April 2019 and December 2021. The SF-12 General Health Survey and Preparedness for Caregiving scale were used to measure the caregivers' QoL and preparedness, respectively. The Disability Rating and TBI Symptom scales were used to measure the patients' disability and symptoms, respectively. A total of 36 FCs and patients with TBI were recruited. Most caregivers were the parent (41.7%) or child (27.8%) of the patient with TBI. Overall, the caregivers had good physical QoL (PQoL) and mental health QoL (MHQoL) but low caregiving preparedness at the time of discharge. At 8 weeks post-discharge, there were significant improvements in caregiving preparedness (P <0.01) and patient disability (P <0.05) but a depreciation in caregivers' MHQoL (P <0.05), with no change in their PQoL. The caregiver's employment status and the severity of the patient's sleep and mood problems were modifiable predictors of the caregivers' PQoL. Caregiver's preparedness, the patient's inability to live independently, and the severity of the patient's mood and behavioural problems were predictors of caregivers' MHQoL. Caring for patients with TBI negatively impacts the QoL of Omani FCs; this correlates with the physical, emotional, and mental health symptoms of the patient.

Caregiving Preparedness and Caregiver Burden in Omani Family Caregivers for Patients with Acquired Brain Injury

Objectives: This study aimed to explore the caregiving preparedness and caregiver burden among Omani family caregivers (FCs) of patients with acquired brain injury (ABI). Methods: This prospective observational study was conducted at the neurology clinic at Khoula Hospital, Muscat, Oman, from April 2019 to December 2021. Data were collected from 119 FCs and their patients at the time of discharge from the hospital and 16 weeks post-discharge during follow-up care. The questionnaire comprised the Zarit Burden Index, the Preparedness for Caregiving Scale, the Short-Form-12 Health Survey, and a patient symptom scale. Results: The FCs were predominantly female (53.8%), and the mean age was 38.27 ± 9.11 years. Most patients had moderate to severe ABI (95.8%) due to stroke (56.3%) and trauma (30.3%). The most common patient symptoms were loss of muscle strength, speech problems, mood problems, memory loss, and change in behaviour. Most FCs were found to have low caregiving preparedness (58%) at discharge, and 19.1% were found to have a high level of caregiver burden at 16 weeks post-discharge. The length of time post-injury (P &lt;0.01), symptom severity (P &lt;0.01) and the FCs’ physical and mental health status (P &lt;0.01 each) were found to be significant predictors of caregiving preparedness, whereas caregiver preparedness (P &lt;0.01), symptom severity (P &lt;0.01), and caregivers’ mental health (P = 0.028) were seen as the predictors of caregiver burden. Conclusion: Omani FCs of patients with ABI tend to commence the caregiver role with inadequate preparation, and shortly after, a significant number suffer high caregiver burden. Interventions focusing on the caregiver’s health and training in symptom management may improve the outcomes of FCs and patients. Keywords: Acquired Brain Injury; Caregiver Burden; Caregivers; Family; Rehabilitation; Traumatic Brain Injuries; Oman.

Omani Families Caring for a Member with Mental Illness: A Descriptive Qualitative Study

The aim of this qualitative descriptive study was to gain an in depth understanding and knowledge regarding how Omani families care for a member with mental illness including how they supported the later in self-care activities. Data was collected from participants using a purposive sample consisting of ten family caregivers whose member was in Sultan Qaboos University Hospital in Muscat. Each caregiver participated in one semi-structured interview. The interviews were analyzed using qualitative content analysis. The findings included two major themes: The first theme was “caring and empowering with empathy, love, and understanding.” The second theme was “self-denial and giving without limitations.” In conclusion, Omani family caregivers for a mentally ill family member provided optimum level of care to help and empower their family members to manage the mental illness. However, in so doing, those caregivers denied and neglected themselves for taking care of their mentally ill members. Several appropriate clinical interventions and policies are needed to support those family caregivers, to create a situation recently referred to as becoming “care partners.”

Progressive pseudorheumatoid dysplasia in an Omani family: a case report

Background: Progressive pseudorheumatoid dysplasia (PPRD) is an inherited autosomal recessive musculoskeletal condition caused by mutations in the Cellular Communication Network Factor 6 (CCN6) gene. This causes a variety of clinical features such as short stature, genu varum, etc. Case Presentation: This study reported cases of three patients from the same family who exhibited the clinical features of PPRD, and the condition was diagnosed through confirmatory genetic testing. The whole exome sequencing test results for the 15-year-old and 3-year-old males revealed a class-5 pathogenic homozygous mutation in the CCN6 gene, resulting in both individuals being diagnosed with autosomal recessive PPRD. The results for the third patient had not come out yet. Conclusion: For patients with PPRD, it is necessary to take the full family history and genetic testing that might help in the diagnosis and treatment of the condition.

Determinants of quality of life among Omani family caregivers of adult patients with cancer pain.

The study aimed to explore the determinants of quality of life (QoL) among Omani family caregivers (FCGs) of adult patients with cancer pain. A descriptive cross-sectional design, measures of caregiver reaction, knowledge about cancer pain, self-efficacy for cancer pain and other symptom management, QoL, and patient functional status were used to collect data from 165 FCGs and patients. Descriptive, correlation, and regression analyses were performed. Most patients had intermittent (83%) and severe (50.9%) cancer pain. The FCGs had low QoL (58.44±17.95), and this mostly impacted support and positive adaptation (55.2%). Low QoL was associated with low self-rated health, low confidence in the ability to control the patient's pain, low self-efficacy, high perceived distress due to patient pain, and a high impact of caregiving on physical health. The level of caregiver distress due to the patient's pain (p<0.01), patient's functional status (p<0.01), and perceived impact of caregiving on health (p<0.05) were significant predictors of overall QoL. Omani FCGs of patients with cancer pain suffer a negative impact on their QoL, and this is related to the patient's level of pain and functional status, caregiver's health, and self-efficacy in cancer pain and symptom management. The FCGs' QoL may be enhanced by augmenting their skills and self-efficacy in cancer pain and symptom management and by health promotion programs.

Multiple mechanisms underlie reduced potassium conductance in the p.T1019PfsX38 variant of hERG.

Long QT syndrome type II (LQT2) is caused by loss‐of‐function mutations in the hERG K+ channel, leading to increased incidence of cardiac arrest and sudden death. Many genetic variants have been reported in the hERG gene with various consequences on channel expression, permeation, and gating. Only a small number of LQT2 causing variants has been characterized to define the underlying pathophysiological causes of the disease. We sought to determine the characteristics of the frameshift variant p.Thr1019ProfsX38 (T1019PfsX38) which affects the C‐terminus of the protein. This mutation was identified in an extended Omani family of LQT2. It replaces the last 140 amino acids of hERG with 37 unique amino acids. T1019 is positioned at a distinguished region of the C‐terminal tail of hERG, as predicted from the deep learning system AlphaFold v2.0. We employed the whole‐cell configuration of the patch‐clamp technique to study wild‐type and mutant channels that were transiently expressed in human embryonic kidney 293 (HEK293) cells. Depolarizing voltages elicited slowly deactivating tail currents that appeared upon repolarization of cells that express either wild‐type‐ or T1019PfsX38‐hERG. There were no differences in the voltage and time dependencies of activation between the two variants. However, the rates of hERG channel deactivation at hyperpolarizing potentials were accelerated by T1019PfsX38. In addition, the voltage dependence of inactivation of T1019PfsX38‐hERG was shifted by 20 mV in the negative direction when compared with wild‐type hERG. The rates of channel inactivation were increased in the mutant channel variant. Next, we employed a step‐ramp protocol to mimic membrane repolarization by the cardiac action potential. The amplitudes of outward currents and their integrals were reduced in the mutant variant when compared with the wild‐type variant during repolarization. Thus, changes in the gating dynamics of hERG by the T1019PfsX38 variant contribute to the pathology seen in affected LQT2 patients.

Reducing barriers to female entrepreneurship in Oman: does family matter?

PurposePrevious research has found that family characteristics, including family income, entrepreneurship/business experience and family size, can influence offspring’s entrepreneurial potential and perception of the barriers to entrepreneurship. This paper aims to extend this proposition to women in Oman to determine whether family income, entrepreneurship/business experience and family size influence women’s perception of barriers to entrepreneurshipDesign/methodology/approachThis study is based on primary data that was collected through a structured questionnaire from 123 female respondents at an Omani private university. The data was analysed using PCA, correlation and regression analysis to determine the influence of the family characteristic on the perception of barriers to entrepreneurship.FindingsThe findings concluded that the three family characteristics being tested were not able to predict a change in the perception of barriers to entrepreneurship. This contradicts previous research conducted in Western contexts and highlights the potential weakness in family support for female entrepreneurship in Oman.Originality/valueThese results challenge some of the extant findings in the literature, thus enriching the current perspectives on female entrepreneurship and the impact of Omani family characteristics, in terms of income, economic background and family size, on the perception of barriers that hinder entrepreneurship among female students

Causes of divorce and its effects on the Omani Family

هدفت الدراسة الحالية إلى معرفة الأسباب المؤدية للطلاق والآثار المترتبة عليه في المجتمع العماني، والوصول إلى وضع توصيات للتقليل من الطلاق في المجتمع العماني.&#x0D; تستند الدراسة الحالية الى المنهج النوعي، من خلال تحليل البيانات الإحصائية للإحصاءات الرسمية لوزارة العدل ، وإحصاءات المركز الوطني للإحصاء والمعلومات بالسلطنة، وتحليل مضمون المقابلات مع مجموعة من المختصين من باحثين اجتماعيين وإخصائيين في الإرشاد والتوجيه الأسري في دوائر التنمية الأسرية بمختلف محافظات السلطنة. وقد بينت نتائج هذه الدراسة إن الفئات العمرية الأكثر تعرضاً للطلاق هي من الفئات الشابة من عمر 20 إلى 30 عاماً، وفي مدة الخمس سنوات الأولى من عمر الزواج، كما أن عامل سوء الاختيار الزواجي ، وسوء التوافق الزواجي ، وعدم توافر مسكن مستقل ، وعدم القدرة على الإنجاب ، تعد من أهم الأسباب الاجتماعية والاقتصادية والصحيةالتي تؤدي الى الطلاق بين الأزواج في المجتمع العماني.&#x0D; وقد توصلت الدراسة إلى أن الآثار الأكثر ضررا الناتجة عن الطلاق تقع على الأبناء، ومن ثم على النساء المطلقات، ولاسيّما الأمهات منهن. وتظهر حدة هذه الآثار في الضرر النفسي الذي يصيب الأبناء والذي بدوره يؤثر في مستواهم التحصيلي والسلوكي والنفسي ويصيبهم بالحرمان العاطفي.&#x0D; وقدمت الدراسة مقترحات للتقليل من ظاهرة الطلاق في المجتمع العماني، منها تكثيف التوعية المجتمعية بأهمية الاختيار الزواجي للشباب العماني من الجنسين، فضلا عن توعية الشباب المقبل على الزواج بمهارات إدارة الخلافات الزوجية، وسياسة الإنفاق المناسبة، وكيفية فهم الطرف الآخر سعيا لتحقيق أكبر توافق زواجي، وإلزامية الكشف الطبي قبل الزواج ، لمّا له من أهمية بالغة في استقرار الأسرة.

A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.

ContextPseudohypoaldosteronism (PHA) is a condition in which serum aldosterone level is normal or elevated but its action is deficient.ObjectiveThis study describes the molecular genetics of PHA 1b in the highly consanguineous population of 2 Arabian Gulf countries, Saudi Arabia and Oman.MethodsThis study enrolled 22 patients from 13 unrelated families (2 families with 5 patients from Oman and 11 families with 17 patients from Saudi Arabia). All of these patients had presented within the first 10 days of life with nausea and vomiting, hyponatremia, hyperkalemia, and hypotension. We isolated DNA from peripheral blood and PCR-sequenced all exons and exon-intron boundaries of SCNN1A and, if negative, SCNN1B and SCNN1G using the Dideoxy Chain termination method.ResultsWe found a total of 8 mutations in 13 families as follows: 6 mutations in SCNN1A, 1 in SCNN1B, and 1 in SCNN1G. All of these mutations were novel except one. SCNN1A mutations were: c.1496A>G, p.Q499R (novel) in 1 patient; c.1453C>T, p.Q485X (novel) in 1 patient; c.1322_1322delA, p.N441Tfs*41 (novel) in 2 patients of 1 family; c.876 + 2 delGAGT (novel) in 3 patients of 1 family; c.203_204 delTC, p.I68Tfs*76 (a known mutation) in 8 patients of 5 families; and whole SCNN1A gene deletion (novel) in 2 patients of 2 families. In addition, a nonsense SCNN1B mutation c.1694C>A, p.S565X (novel) was found in 3 siblings from 1 Omani family, and an SCNN1G deletion mutation c.527_528 delCA, p.T176Rfs*9 (novel) in 2 siblings from another Omani family.ConclusionWe characterized a unique genotype of PHA 1b with several novel gene structure–disrupting mutations in SCNN1A, SCNN1B, and SCNN1G in a highly consanguineous population.

The Family Dialogue Culture and Its Obstacles in the Omani Family from the Viewpoint of Teachers in North Eastern Province, Sultanate of Oman

This quantitative study investigates the level of the culture of dialogue within the Omani family and its hindrances from teachers’ perspectives in Ash Sharqiya North Governorate in the Sultanate of Oman. Out of 4516 teachers in the governorate in the academic year 2018-2019, 96 teachers participated in the study. The study used a survey, which included two sections; one assessed the level of the culture of dialogue and the second assessed obstacles of family dialogue. The study revealed that, based on the teachers’ perspectives, there was a high level of the culture of dialogue in the Omani family. The level of the obstacles of the family dialogue was low. The major obstacles were family dependency on housemaids, other employees at home, and parents being busy. Further, the study indicated that there were no statistically significant differences at the level of (0.05) in the areas of the culture of dialogue on gender, level of education, social status, and the number of family members. However, a statistically significant difference exists at the level of the culture of dialogue at the gender factor in favor of male teachers. There were no statistically significant differences at the level of (0.05) at the hindrances of the culture of dialogue based on gender, level of education, social status, and the number of family members. The main recommendations were: a) activating the culture of dialogue within educational institutions such as schools, b) the importance of parents’ awareness of characteristics of children’s development stages c) conducting workshops and seminars for parents and d) enhancing the media role for the importance and advantages of the culture of dialogue.

In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss

BackgroundHereditary hearing loss is a heterogeneous group of complex disorders with an overall incidence of one in every 500 newborns presented as syndromic and non-syndromic forms. Cadherin-related 23 (CDH23) is one of the listed deafness causative genes. It is found to be expressed in the stereocilia of hair cells and in the retina photoreceptor cells. Defective CDH23 have been associated mostly with prelingual severe-to-profound sensorineural hearing loss (SNHL) in either syndromic (USH1D) or non-syndromic SNHL (DFNB12) deafness. The purpose of this study was to identify causative mutations in an Omani family diagnosed with severe-profound sensorineural hearing loss by whole exome sequencing technique and analyzing the detected variant in silico for pathogenicity using several in silico mutation prediction software. ResultsA novel homozygous missense variant, c.A7436C (p. D2479A), in exon 53 of CDH23 was detected in the family while the control samples were all negative for the detected variant. In silico mutation prediction analysis showed the novel substituted D2479A to be deleterious and protein destabilizing mutation at a conserved site on CDH23 protein. ConclusionIn silico mutation prediction analysis might be used as a useful molecular diagnostic tool benefiting both genetic counseling and mutation verification. The aspartic acid 2479 alanine missense substitution might be the main disease-causing mutation that damages CDH23 function and could be used as a genetic hearing loss marker for this particular Omani family.

Factors Driving the Omani Family to Travel Abroad: A Field Study

In recent years, the family in the Arab and Gulf countries has experienced many structural changes because of various transformations that have contributed to changing some of its functions. The modern Omani family has witnessed some radical changes in its structure consistent with the recent developments in the Sultanate. These changes occurred in various economic, social, political and cultural fields, which led to the spread of some modern phenomena, including the phenomenon of travelling abroad. According to the latest statistics issued by the National Center for Statistics and Information in the Sultanate of Oman, there is an increase in the number of Omanis departing from the Sultanate, which accounted for 77.7% of the total departures from the Sultanate during August 2017. There are many social, economic, cultural, health, and other factors that drive families to travel abroad. While imitation and simulation of relatives or peers are behind travelling abroad, others see it as means to gain a high social status or as an opportunity to strengthen social relations between family members. Of course, for many others the main driving factor is seeking medical checkup and treatment. Thus, the research problem focuses on identifying the factors that drive the Omani family to travel outside the Sultanate. The researchers relied on the analytical descriptive method using a comprehensive social survey. The research instrument was administered among parents (fathers or mothers) of third year students majoring in sociology or social work, as well as students registered in the college required philosophy course for the fall semester of 2017.The study found that there are many social, economic, cultural and health factors that drive Omani families to travel abroad. It also provided suggestions, along with some mechanisms that are useful in rationalizing the travel of Omani families abroad.

Factors Driving the Omani Family to Travel Abroad: A Field Study

In recent years, the family in the Arab and Gulf countries has experienced many structural changes because of various transformations that have contributed to changing some of its functions. The modern Omani family has witnessed some radical changes in its structure consistent with the recent developments in the Sultanate. These changes occurred in various economic, social, political and cultural fields, which led to the spread of some modern phenomena, including the phenomenon of travelling abroad. According to the latest statistics issued by the National Center for Statistics and Information in the Sultanate of Oman, there is an increase in the number of Omanis departing from the Sultanate, which accounted for 77.7% of the total departures from the Sultanate during August 2017. There are many social, economic, cultural, health, and other factors that drive families to travel abroad. While imitation and simulation of relatives or peers are behind travelling abroad, others see it as means to gain a high social status or as an opportunity to strengthen social relations between family members. Of course, for many others the main driving factor is seeking medical checkup and treatment. Thus, the research problem focuses on identifying the factors that drive the Omani family to travel outside the Sultanate. The researchers relied on the analytical descriptive method using a comprehensive social survey. The research instrument was administered among parents (fathers or mothers) of third year students majoring in sociology or social work, as well as students registered in the college required philosophy course for the fall semester of 2017.The study found that there are many social, economic, cultural and health factors that drive Omani families to travel abroad. It also provided suggestions, along with some mechanisms that are useful in rationalizing the travel of Omani families abroad.

Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene.

Distal hereditary motor neuropathy (dHMN) due to sigma non-opioid intracellular receptor 1 (SIGMAR1) gene mutation (OMIM 601978.0003) is a rare neuromuscular disorder characterized by prominent amyotrophic distal limb weakness and co-existing pyramidal signs initially described in a Chinese family recently. We report an extended consanguineous Omani family segregating dHMN with pyramidal signs in an autosomal recessive pattern and describe a novel mutation in the SIGMAR1 gene underlying this motor phenotype. We also provide an update on the reported phenotypic profile of SIGMAR1 mutations. We utilized homozygosity mapping and whole-exome sequencing of leucocyte DNA obtained from three affected members of an Omani family who manifested with a length-dependent motor neuropathy and pyramidal signs. We identified a novel C>T transition at nucleotide position 238 (c.238C>T) in exon 2 of the SIGMAR1 gene. Sanger sequencing and segregation analysis confirmed the presence of two copies of the variant in the affected subjects, unlike the unaffected healthy parents/sibling who carried, at most, a single copy. The T allele is predicted to cause a truncating mutation (p.Gln80*), probably flagging the mRNA for nonsense-mediated decay leading to a complete loss of function, thereby potentially contributing to the disease process. Our finding expands the spectrum of SIGMAR1 mutations causing recessive dHMN and indicates that this disorder is pan-ethnic. SIGMAR1 mutation should be included in the diagnostic panel of a dHMN, especially if there are co-existing pyramidal signs and autosomal recessive inheritance.

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.

Intellectual disability (ID) is the term used to describe a diverse group of neurological conditions with congenital or juvenile onset, characterized by an IQ score of less than 70 and difficulties associated with limitations in cognitive function and adaptive behavior. The condition can be inherited or caused by environmental factors. The genetic forms are heterogeneous, with mutations in over 500 known genes shown to cause the disorder. We report a consanguineous Omani family in which multiple individuals have ID and developmental delay together with some variably present features including short stature, microcephaly, moderate facial dysmorphism, and congenital malformations of the toes or hands. Homozygosity mapping combined with whole exome next generation sequencing identified a novel homozygous single base pair deletion in TUSC3, c.222delA, p.R74 fs. The mutation segregates with the disease phenotype in a recessive manner and is absent in 60,706 unrelated individuals from various disease-specific and population genetic studies. TUSC3 mutations have been previously identified as causing either syndromic or non-syndromic ID in patients from France, Italy, Iran and Pakistan. This paper supports the previous clinical descriptions of the condition caused by TUSC3 mutations and describes the seventh family with mutations in this gene, thus contributing to the genetic spectrum of mutations. This is the first report of a family from the Arabian peninsula with this form of ID. © 2016 Wiley Periodicals, Inc.

The Effect of Internet Usage on Relations between Members of the Omani Family in the Dhofar Region

&lt;p&gt;Oman has a society which is highly driven by religious and cultural values. Religion and culture have both been apparent sustenance to shape every area of Omanis’ daily life at individual, familial and societal levels. The instituting of modern technology, particularly the Internet, has a decisive impact on the traditional and structural nature of Omani’s family life. This study has examined such impact on families. This is an exploratory study employing quantitative data. Around 200 families from different parts of Dhofar, Oman (such as Salalah, Mirbath, Thamreet and Taqa) have been recruited by a purposive sampling, and their views and experiences on how their use of modern technology influences their life were collected. The findings suggested that the Internet use has produced a low husband-wife relationship in family life. Findings also suggest that there was a low relationship between siblings in a family. The Internet use had also effects on Omani families’ traditional culture and beliefs.&lt;/p&gt;

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

Elevated sweat chloride levels, failure to thrive (FTT), and lung disease are characteristic features of cystic fibrosis (CF, OMIM #219700). Here we describe variants in CA12 encoding carbonic anhydrase XII in two pedigrees exhibiting CF-like phenotypes. Exome sequencing of a white American adult diagnosed with CF due to elevated sweat chloride, recurrent hyponatremia, infantile FTT and lung disease identified deleterious variants in each CA12 gene: c.908-1 G>A in a splice acceptor and a novel frameshift insertion c.859_860insACCT. In an unrelated consanguineous Omani family, two children with elevated sweat chloride, infantile FTT, and recurrent hyponatremia were homozygous for a novel missense variant (p.His121Gln). Deleterious CFTR variants were absent in both pedigrees. CA XII protein was localized apically in human bronchiolar epithelia and basolaterally in the reabsorptive duct of human sweat glands. Respiratory epithelial cell RNA from the adult proband revealed only aberrant CA12 transcripts and in vitro analysis showed greatly reduced CA XII protein. Studies of ion transport across respiratory epithelial cells in vivo and in culture revealed intact CFTR-mediated chloride transport in the adult proband. CA XII protein bearing either p.His121Gln or a previously identified p.Glu143Lys missense variant localized to the basolateral membranes of polarized Madin-Darby canine kidney (MDCK) cells, but enzyme activity was severely diminished when assayed at physiologic concentrations of extracellular chloride. Our findings indicate that loss of CA XII function should be considered in individuals without CFTR mutations who exhibit CF-like features in the sweat gland and lung.

Long QT syndrome, cardiovascular anomaly and findings in ECG-guided genetic testing

ObjectivePatients with inherited long QT syndrome (LQTS) are prone to torsade de pointes and sudden death (SD). Identifying affected individuals is important for SD prevention. This study aimed to determine the cause and genotype–phenotype characteristics of LQTS in a large Omani family. MethodsUpon LQTS diagnosis of a 5-year-old girl (proband), targeted mutation screening was performed based on the gene-specific ECG pattern identified in her mother. ECG-guided family genotyping was conducted for identifying additional affected individuals. ResultsECGs of the proband demonstrated 2:1 AV block, incomplete right bundle branch block (IRBBB) and markedly prolonged QTc (571–638 ms) with bizarre T waves. Cardiac imaging revealed dilatation of the ascending aorta and pulmonary artery, and left ventricular non-compaction. Her parents were first cousins. Both showed mild QT prolongation, with the mother presenting a LQT2 T wave pattern and the father IRBBB. Targeted KCNH2 screening identified a novel homozygous frameshift mutation p.T1019Pfs × 38 in the proband within 3 days. Family genotyping uncovered 3 concealed LQT2 and confirmed 11 members showing LQT2 ECG patterns as heterozygous mutation carriers. All heterozygous carriers were asymptomatic, with 71% showing normal to borderline prolonged QTc (458 ± 33 ms, range 409–522 ms). Conclusionp.T1019Pfs × 38, a novel KCNH2 mutation, has been identified in a large LQTS family in Oman. Consanguineous marriages resulted in a homozygous with severe LQTS. ECG-guided phenotyping and genotyping achieved a high efficiency. Genetic testing is essential in identifying concealed LQTS. Further investigation is warranted to determine if there is a causative relationship between homozygous p.T1019Pfs × 38 and cardiovascular anomaly.

A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report

IntroductionResistance to thyroid hormone is a rare syndrome, where although the level of thyroid hormone is elevated, the level of thyroid stimulating hormone is not suppressed. The patient in our case report is, to the best of our knowledge, the first with this syndrome identified in Oman.Case presentationIn one Omani family, a 15-year-old girl of Arabian origin was pre-diagnosed with resistance to thyroid hormone. Blood sample was collected and deoxyribonucleic acid was isolated for molecular genetic testing. The results revealed a rare mutation A268G in the gene for thyroid hormone receptor beta. We believe that this mutation is the cause of the pathology in our patient.ConclusionWe report the presence of a rare mutation in the thyroid hormone receptor beta gene for the first time in the Omani population. Due to the rates of consanguinity being high among the Omani population, we are aiming to screen our patient’s family members and provide genetic counseling.

First Case Report of Familial Hypercholesterolemia in an Omani Family Due to Novel Mutation in the Low-Density Lipoprotein Receptor Gene

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). We report the first case of FH in an Omani family due to a novel mutation in the LDLR gene. A 9-year-old female was referred to our lipid clinic with eye xanthelasmata and thickening of both Achilles tendons. Evaluation of the lipid profile showed the off treatment total cholesterol of 896 mg/dL (23.2 mmol/L), low-density lipoprotein cholesterol (LDL-C) of 853 mg/dL (22.1 mmol/L), APOB of 4.5 g/L, triglyceride of 71 mg/dL (0.8 mmol/L), and high-density lipoprotein cholesterol of 0.74 mmol/L. Genetic analysis of the LDLR gene showed a homozygous frameshift deletion mutation (272delG) at exon 3. The female patient was treated with a combination of rosuvastatin/ezetimibe and LDL apheresis.