Turkish Family Research Articles

Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect.

In vitro fertilization (IVF) involves controlled ovarian hyperstimulation using hormones to produce large numbers of oocytes. The success of IVF is tightly linked to the availability of mature oocytes. In most cases, about 70% to 80% of the oocytes are mature at the time of retrieval, however, in rare instances, all of them may be immature, implying that they were not able to reach the metaphase II (MII) stage. The failure to obtain any mature oocytes, despite a well conducted ovarian stimulation in repeated cycles is a very rare cause of primary female infertility, for which the underlying suspected genetic factors are still largely unknown. In this study, we present the whole exome sequencing analysis of a consanguineous Turkish family comprising three sisters with a recurrent oocyte maturation defect. Analysis of the data reveals a homozygous splice site mutation (c.1775-3C>A) in the zona pellucida glycoprotein 1 (ZP1) gene. Minigene experiments show that the mutation causes the retention of the intron 11 sequence between exon 11 and exon 12, resulting in a frameshift and the likely production of a truncated protein.

Colonization and Vertical Tranmission of Mutans Streptococci in a Group of Turkish Families

Colonization and Vertical Tranmission of Mutans Streptococci in a Group of Turkish Families

Karataş Tarihi Yerleşimi'nin Dönüşümü Üzerine Bir İnceleme

There is growing evidence that heritage conservation carries benefits in many areas of the urban environment. Local authorities, decision makers, institutions and authorities involved in urban development programs have recognized the urgent need to preserve their cultural resources and assets. The scientific community and research activities have brought to attention the development of methodologies, technologies and tools to guide, forecast, monitor and assess old buildings. The concept of historical environments is first drawn in Venice Charter as “urban or rural setting”. It is defined as “the evidence of a particular civilization, a significant development or a historic event” (ICOMOS, 1964). According to this charter, monuments should be evaluated with its environment. Ahunbay (2011) stated that historical environments are open-air museums that reveals how people have live in the past. Historical environments are educational places in terms of lifestyle, construction techniques, social life and culture. Washington Charter (1987) defined the elements, which is constituted of the historical characteristics of the historical settlements as follows: economic and social development, urban and regional planning should be integrated to the conservation of historic towns and urban areas. Urban patterns, open space, green space and buildings relationships, scale, size, style, construction technique, material, colour and decoration of the buildings, surrounding of the setting and its relationship between the urban area, various function has acquired over time. Burra Charter (2013) provides guideline for conservation and management. Conservation defined as retain cultural significance of a place. It is part of management of places of cultural significance. First step of conservation is understanding of cultural significance, then development of policy and management of the place should be developed. In accordance with these ideas, the conservation of the historical site approach is developed. To conserve characteristics of the cities and preserve its identity, conservation of a region (instead of conservation a single building) should be done (Radoslav et al, 2012). Historical settlements are one of the important elements that determine the identity of the cities. These environments have many values including art, architectural, historical and documentary. They provide information about historical settlements and lifestyle. It is important to conserve these environments, to sustain these values (Ahunbay, 2011). They make cities more attractive and it promote the economy at the same time. This idea increased the attention to historic settlements to manage sustainable urban development (Radoslav et al, 2012). Historical environments should be evaluated with strategies that have a holistic and participatory approach. The study focuses on Karataş (Quarantine) historical settlement, once occupied by Jewish, Armenian, Greek and Turkish families during the 19th Century Ottoman Period. They built buildings to support their communities’ needs. Some of these buildings are still standing with same or different building functions. Many of them with the help of the restoration projects, survived to emphasize the cultural identity of their period. After the intrusion of modern apartments, mass road constructions, seaside fills and incline in population, Karataş area had transformed rapidly. The aim of this study is to evaluate current approaches to the Historical Karataş region and defining new strategies to conservation of the site.

Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems

Autism spectrum disorder (ASD) is characterized by 3 core symptoms with impaired social communication, repetitive behavior, and/or restricted interests in early childhood. As a complex neurodevelopmental disorder (NDD), the phenotype and severity of autism are extremely heterogeneous. Genetic factors have a key role in the etiology of autism. In this study, we investigated an Azeri Turkish family with 2 ASD-affected individuals to identify probable ASD-causing variants. First, the affected individuals were karyotyped in order to exclude chromosomal abnormalities. Then, whole-exome sequencing was carried out in one affected sibling followed by cosegregation analysis for the candidate variants in the family. In addition, SNP genotyping was carried out in the patients to identify possible homozygosity regions. Both proband and sibling had a normal karyotype. We detected 3 possible causative variants in this family: c.5443G>A; p.Gly1815Ser, c.1027C>T; p.Arg343Trp, and c.382A>G; p.Lys128Glu, which are in the FBN1, TF, and PLOD2 genes, respectively. All of the variants cosegregated in the family, and SNP genotyping revealed that these 3 variants are located in the homozygosity regions. This family serves as an example of a multimodal polygenic risk for a complex developmental disorder. Of these 3 genes, confluence of the variants in FBN1 and PLOD2 may contribute to the autistic features of the patient in addition to skeletal problems. Our study highlights the genetic complexity and heterogeneity of NDDs such as autism. In other words, in some patients with ASD, multiple rare variants in different loci rather than a monogenic state may contribute to the development of phenotypes.

A Novel COL3A1 c.2644G>T; p.(Gly882Cys) Variant in a Turkish Family with Vascular Ehlers-Danlos Syndrome

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease, also known as EDS type IV. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000 with EDS type IV representing approximately 5-10% of the cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. vEDS diagnosis is a challenging process. Patients usually have different phenotypic features and are unaware of the diagnosis at the time of initial vascular complications. The authors report the case of a 39-year-old male patient with EDS type IV, who developed internal carotid artery dissection and was diagnosed with clinical findings, imaging modalities, and a novel pathogenic COL3A1 variant.

EDİNİLMİŞ MALLARA KATILMA REJİMİNDE AİLE KONUTUNUN SAĞ KALAN EŞE ÖZGÜLENMESİ

Türk Medeni Kanunu’nda, ailede kadın erkek eşitliğinin sağlanmasına yönelik olmak üzere, evliliğin genel hükümleri alanında önemli değişiklikler yapılmıştır. Ayrıca, edinilmiş mallara katılma rejimi yasal mal rejimi olarak kabul edilmiş ve aile konutu müessesesi Türk Hukukuna kazandırılmıştır. Aile konutu eşlerin aile yaşamlarının merkezi durumuna getirdikleri konut olup, hukukumuzda yeni bir müessesedir. Ancak Türk aile yapısı içinde aile konutu diğer ülkelerden çok daha önemli bir konuma sahiptir. Aile konutu kural olarak evlilik birliğinin devamı süresince korunur. Bununla birlikte Türk Medeni Kanunu, eşlerden birinin ölümü üzerine sağ kalan eşin o güne kadar devam eden yaşam tarzının muhafazasını mümkün kılmak amacıyla; 240, 254, 255, 270 ve 652. maddelerle bazı özel kurallar getirmiştir. Bu düzenlemeler gereği sağ kalan eş, aile konutunun mülkiyetinin veya konut üzerinde intifa veya oturma hakkının miras payına veya tasfiye alacağına mahsuben kendisine özgülenmesini talep edebilmektedir. Böylece aile konutu koruması evlilik ötesine taşınmaktadır.

Alteration of Exon Definition Causes Amelogenesis Imperfecta

Amelogenesis imperfecta (AI) is a collection of genetic disorders affecting the quality and/or quantity of tooth enamel. More than 20 genes are, so far, known to be responsible for this condition. In this study, we recruited 3 Turkish families with hypomaturation AI. Whole-exome sequence analyses identified disease-causing mutations in each proband, and these mutations cosegregated with the AI phenotype in all recruited members of each family. The AI-causing mutations in family 1 were a novel AMELX mutation [NM_182680.1:c.143T>C, p.(Leu48Ser)] in the proband and a novel homozygous MMP20 mutation [NM_004771.3:c.616G>A, p.(Asp206Asn)] in the mother of the proband. Previously reported compound heterozygous MMP20 mutations [NM_004771.3:c.103A>C, p.(Arg35=) and c.389C>T, p.(Thr130Ile)] caused the AI in family 2 and family 3. Minigene splicing analyses revealed that the AMELX missense mutation increased exonic definition of exon 4 and the MMP20 synonymous mutation decreased exonic definition of exon 1. These mutations would trigger an alteration of exon usage during RNA splicing, causing the enamel malformations. These results broaden our understanding of molecular genetic pathology of tooth enamel formation.

USING EDUCATIONAL MARBLE GAMES IN GERMAN LANGUAGE TEACHING

The aim of this article is to show how German students can be motivated by learning games. Apart from the development and didacticisation of the learning game “Marbles”, the attitude of Turkish families and language teaching educational establishments and the support of the DaF lessons by German mediating institutions in Turkey will be considered. The attitude of Turkish families to learning foreign languages is mostly positive. Turkish educational authorities and those responsible for education take various measures to expand foreign language teaching availability in the schools. German institutions which provide teachers (Goethe-Institut, ZfA, DAAD) promote the improvement of German teaching in Turkey. Nevertheless, the quality of German teaching is not satisfactory mostly because the available teachers are not adequately qualified, teacher training is remote from practice, the quality of text books and teaching materials, the traditions of learning, the excessively large classes, inadequate learning environment (language cabinets and equipment), the nature and method of central examinations (multiple choice) and their significance in the Turkish educational system. In the long-term, this leads to frustration in both teachers and students. The Turkish educational authorities initially took measures to expand the availability of language teaching in the course of harmonisation of the Turkish educational system to that of the EU e.g. the introduction of a second foreign language. German mediating institutions ensure reasonable further training for teachers locally and in Germany and support the creation of teaching materials etc.
 The Ministry of Education in Turkey, has started to take measures for students to learn other languages such as German, French, Russian, Spanish, Japanese, Italian, Arabic, ethnic languages ​​in Turkey, et cetera in the educational institutions in addition to English. For example, in the Anatolian high schools two foreign languages are taught. The Board for Higher Education in Turkey, has introduced second foreign language lessons in foreign language teacher programs, envisioned to be taken for three semesters, in order for the language teachers to gain experience in the field of two languages. Private education institutes are emphasizing that they are teaching more than one foreign language in order to draw more students. Families make an economic sacrifice for their children in order for them to learn foreign languages. It is observed that in some districts of certain major cities, teaching of foreign languages has started to be given as early as at kindergarten level. In Turkey, German is preferred as the second foreign language in general. Nowadays, German is the second preferred language from primary to high school in Turkey. The quality of German language lessons should be increased for more students to select German as the second foreign language in the coming years. Despite all these efforts, teaching foreign language is not up to the desired level in Turkey (Bayraktaroğlu, 2014, pp. 9-14; Demircan, 2014, pp. 17-22). For that reason, it is important that motivating teaching methods and teaching materials be developed for German teaching.

The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation

The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation

Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family

Paroxysmal kinesigenic choreoathetosis (PKC) is an inherited disorder with an autosomal dominant mode of inheritance, caused mostly by the mutations in PRRT2 (proline-rich transmembrane protein-2) gene, located on chromosome 16. Pseudoxanthoma elasticum (PXE) is a hereditary metabolic disease with autosomal recessive inheritance resulting from the mutations in the ABCC6 (ATP-Binding Cassette, Subfamily C, Member 6) gene, located also on chromosome 16. Here we present a female patient with familial paroxysmal kinesigenic dyskinesia and benign familial infantile convulsions (BFIC), in whom both a heterozygous truncating frameshift mutation in the PRRT2 gene and a heterozygous missense mutation in the ABCC6 gene were demonstrated. The co-existence of these two mutations has not been reported in the literature. Although the clinical symptomatology of PXE was not present in our patient, some family members of our index case had. Here we present a Turkish family with two different mutations on the same chromosome, namely PRRT2 and ABCC6 mutations. However, because these two mutations have separate parental inheritance and are not in linkage disequilibrium, the co-existence was reported as co-incidental.

6-36 Aylık Çocuklarda Edim Bilim Gelişimi

In linguistics, language acquisition is examined as its development in terms of phonology, phonetics, morphology, semantic knowledge, sentence knowledge, and the performance of the mother tongue. It is an acquisition that begins in the womb, develops in the preschool period and lasts a lifetime. As each person’s inheritance and environmental characteristics are different, this process varies according to the cognitive, biological, emotional and social conditions of the child. The social basis of language acquisition is environmental input, and language development is treated as the child’s maturation in language use by passing through certain stages at certain ages. Children learn the rules of language in their social structure as well as for what purpose they are used. It may be possible for children to acquire their mother tongue and learn how to use that language in various contexts, by living in the culture where that language is used. Language is a means of communication for the child, and children can use language more extensively by socializing with adults who use language better. Social use of language in every culture has some rules such as politeness, speaking in a way that the listener understands, waiting for the order of speech, starting and continuing the conversation, gestures and gestures during the conversation, and these social rules develop in early childhood. It has been observed that there are few studies in our country on how the child developed his / her knowledge of single word, two words and grammar period starting from the pre-language period, and how he / she learned how to use the language. In recent years, it has been found that the majority of studies have been done to analyze the interaction of parents with children in Turkish families and the language directed towards the child by the parents. In this study, as a result of longterm observations, performance assessment of children was requested from 6 months from birth. The processes of learning how to use language have been observed in 11 children between 6-36 months; two of these children have been observed in a home setting, nine of them in a nursery for two and a half years. Observation records have been taken twice a month, with an interval of 15 days. The natural observation method has been applied, the audio and video recordings of the children were taken for 1 hour in the natural environment without any external intervention, the data obtained has been determined by the data obtained in the studies on this subject, and similarities and differences have been tried to be determined.

The Spirometry and The Peak-flow Meter Usage Status of Turkish Family Physicians: A Descriptive Study

The Spirometry and The Peak-flow Meter Usage Status of Turkish Family Physicians: A Descriptive Study

Deep White Matter Lesions with Persistent Diffusion Restriction on MRI as a Diagnostic Clue: Neuroimaging of a Turkish Family with Hereditary Diffuse Leukoencephalopathy with Spheroids and Literature Review.

Background:Hereditary diffuse leukoencephalopathy with spheroids (HDLS), first described in 1984 is a rare disorder. Generally, it presents at adulthood with dementia, motor impairment, extrapyramidal abnormalities, and epilepsy. Definitive diagnosis is made by brain biopsy. Neuroimaging studies have revealed confluent white matter lesions predominantly in the frontal lobes, corpus callosum, and corticospinal tracts on conventional magnetic resonance imaging. Only a few reports showed diffusion restriction in the cerebral white matter; furthermore, rarer reports emphasized persistent foci of diffusion restriction as a diagnostic imaging marker.Objective:Herein, we have aimed to illustrate the first biopsy-proven Turkish HDLS pedigree consisting of 18 persons in 3 generations which contained 4 affected individuals.Materials and Methods:Four individuals in the pedigree of HDLS [two affected patients (patient III-1 and patient III-2) and two unaffected individuals (patient II-4 and patient III-5)] were investigated with conventional MRI and Diffusion-weighted imaging (DWI) using 1.5 Tesla (T) scanner. All four individuals were evaluated via neurological examinations and Mini-Mental State Examination. Brain biopsy study was performed on patient III-2. Finally, an extensive literature review involving pathology investigations and neuroimaging studies of HDLS patients was conducted.Results:DWIs of two investigated patients showed deep white matter lesions with persistent diffusion restriction. Computed tomography imaging showed punctate mineralization in the lesions. Biopsy specimens of patient III-2 demonstrated axonal spheroids which were typical for HDLS.Conclusions:Via the presentation of our pedigree and literature review, we suggest HDSL as a first-line differential diagnosis in patients with undiagnosed adult-onset familial leukoencephalopathy, in particular, those with MRI lesions of frontal white matter and centrum semiovale associated with foci of diffusion restriction and mineralization. Finally, we think that the persistence of the diffusion restriction in deep white matter lesions should be kept in mind as a crucial neuroimaging sign for HDLS.

DECORATIVE ARTS IN TRADITIONAL TURKISH HOUSE IN THE CONTEXT OF SPACE DESIGN: AN EVALUATION

The traditional Turkish House is an original piece of architecture, which reflects Turkish family structure as well as their understanding of culture and art, their beliefs and social values about the spaces they live in. The structure of the physical environment, the lifestyle of the family, and social and psychological needs alike have contributed to the development of this original architectural structure and shaped its design aspects. Rooms in a Turkish house are spaces for private use and are organized such that they can cater for all activities of a family. The same room boasts a hearth to heat the space, a divan to sit on, a bathing cubicle to wash, and a closet to store sheets, blankets and other needs. The size of the rooms is planned according to the hierarchy in the family. Halls connecting the rooms are shared areas of use for all family members. Though the meticulous decorative arts and wooden craftsmanship on the ceilings, cabinets and door surfaces in a Turkish house can be thought to be based on the carpets and rugs used in the tents, traditional decorative arts such as woodcarving, kündekâri, and Edirnekâri have developed in time and acquired originality.Keywords: Traditional Turkish House, woodcarving, kündekâri, Edirnekâri

An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming belt.

Classical xanthinuria is a rare autosomal recessive metabolic disorder characterized by lack of xanthine dehydrogenase activity that often manifests as xanthine urolithiasis and risk of drug toxicity. Variants in the XDH or HMCS gene underlie classical xanthinuria type I and type II, respectively. Here we present two Israeli Arab families affected by type I xanthinuria in whom a c.2164A>T (Lys722Ter) variant in the XDH gene, previously reported in a Turkish family of Turkmen origin, was identified. Analysis of polymorphic markers surrounding the variant site revealed common haplotypes spanning 0.6 Mbp shared by all three, and 1.7 Mbp shared by two of the studied families. By applying Bayesian methods to a simple model of crossover events through generations in the chromosomes carrying the variant, the most recent common ancestor of these families was found to be 179 (95% credible limit 70) generations old. The estimated antiquity of the variant, the historical genealogy of the affected families and the history and present day dispersion of their people strongly suggest prevalence of this variant in the Afro‐Asian stone‐forming belt. As far as we are aware, this is a first report of an ancient variant causing xanthinuria with potential wide geographical dispersion.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

The conserved transport protein particle (TRAPP) complexes regulate key trafficking events and are required for autophagy. TRAPPC4, like its yeast Trs23 orthologue, is a core component of the TRAPP complexes and one of the essential subunits for guanine nucleotide exchange factor activity for Rab1 GTPase. Pathogenic variants in specific TRAPP subunits are associated with neurological disorders. We undertook exome sequencing in three unrelated families of Caucasian, Turkish and French-Canadian ethnicities with seven affected children that showed features of early-onset seizures, developmental delay, microcephaly, sensorineural deafness, spastic quadriparesis and progressive cortical and cerebellar atrophy in an effort to determine the genetic aetiology underlying neurodevelopmental disorders. All seven affected subjects shared the same identical rare, homozygous, potentially pathogenic variant in a non-canonical, well-conserved splice site within TRAPPC4 (hg19:chr11:g.118890966A>G; TRAPPC4: NM_016146.5; c.454+3A>G). Single nucleotide polymorphism array analysis revealed there was no haplotype shared between the tested Turkish and Caucasian families suggestive of a variant hotspot region rather than a founder effect. In silico analysis predicted the variant to cause aberrant splicing. Consistent with this, experimental evidence showed both a reduction in full-length transcript levels and an increase in levels of a shorter transcript missing exon 3, suggestive of an incompletely penetrant splice defect. TRAPPC4 protein levels were significantly reduced whilst levels of other TRAPP complex subunits remained unaffected. Native polyacrylamide gel electrophoresis and size exclusion chromatography demonstrated a defect in TRAPP complex assembly and/or stability. Intracellular trafficking through the Golgi using the marker protein VSVG-GFP-ts045 demonstrated significantly delayed entry into and exit from the Golgi in fibroblasts derived from one of the affected subjects. Lentiviral expression of wild-type TRAPPC4 in these fibroblasts restored trafficking, suggesting that the trafficking defect was due to reduced TRAPPC4 levels. Consistent with the recent association of the TRAPP complex with autophagy, we found that the fibroblasts had a basal autophagy defect and a delay in autophagic flux, possibly due to unsealed autophagosomes. These results were validated using a yeast trs23 temperature sensitive variant that exhibits constitutive and stress-induced autophagic defects at permissive temperature and a secretory defect at restrictive temperature. In summary we provide strong evidence for pathogenicity of this variant in a member of the core TRAPP subunit, TRAPPC4 that associates with vesicular trafficking and autophagy defects. This is the first report of a TRAPPC4 variant, and our findings add to the growing number of TRAPP-associated neurological disorders.

Self-help as a relief strategy for Turkish family caregiver of people with dementia? A Scoping Review

Abstract Background The number of dementia patients with a migration background is rising in the process of demographic change in Germany. For people with a migration background, care is usually provided at home and is accompanied by an increased burden on relatives. Alleviating support services are rarely used. Methods The scoping review on burden and self-help as a relief strategy for Turkish family caregiver of people with dementia includes the databases PubMed, Livivo, CINAHL and Web of Science and is completed by a ’by hand’ analysis in Google and Google Scholar. A total of 24 publications were included in the analysis. Results Family caregiver of Turkish origin show a high degree of willingness to assume responsibility for care, show knowledge deficits with regard to support services and are exposed to heterogeneous burdens. People with a migration background hardly make use of self-help. Self-help as a relief strategy could be strengthened by needs-oriented and culturally diverse services. Conclusions There is a need for action to improve domestic care for people with a migrant background. This requires the involvement of stakeholders such as those in need of care, caring relatives and professional carers. Self-help for people with a migration background can be activated and promoted with target group-oriented approaches. The support measures should be designed to be sensitive to diversity and correspond to the heterogeneity of the users and their life situations. Key messages Self-help for migrants must be flexible and user-oriented. Diversity-sensitivity in self-help could address people who are difficult to reach.

The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype.

Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy with a prevalence of 1 in 2500 individuals worldwide. Here, we report three Turkish siblings from consanguineous parents presenting with a CMT-like phenotype who carry a homozygous c.493C>T, p.Arg165Cys mutation in the FXN gene that is the only known causative gene for Friedreich's ataxia (FRDA). The identified missense mutation has been reported previously in two FRDA cases in compound heterozygosity with the common GAA repeat expansion in the first intron of the FXN gene. Analysis of skin biopsy samples from our family indicated that the mutation does not affect the expression levels of the frataxin, pointing to functional impairment of the corresponding protein. The CMT phenotype in the siblings was associated with visual impairment, optic nerve atrophy, and dysarthria. To the best of our knowledge, this family represents the first FXN missense mutation in homozygosity and challenges the notion that missense mutations have not been reported yet due to their embryonic lethality. Furthermore, this finding poses an interesting genetic overlap between autosomal recessive CMT and FRDA that we believe may have important implications on understanding the pathogenesis of these neurological disorders.

Parental monitoring in Turkish immigrant families in the United States

ABSTRACT There are a very limited number of studies on the Turkish immigrant population in the U.S. This article explores the parental monitoring strategies Turkish immigrant parents employ and the effects of parental monitoring on the adolescents from the perspective of the parents. In this qualitative study, in-depth, semi-structured interviews were conducted with 15 parents (14 mothers and one father) in 14 Turkish families in and around a large Midwestern city. Two types of parental monitoring strategies were identified: (1) Accommodative parental monitoring strategies, and (2) Conflictual parental monitoring strategies. Parents described themselves as overprotective, and the findings reveal the effects of parents’ overprotectiveness on the adolescents from the parents’ perspectives.

A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax.

BackgroundPrimary spontaneous pneumothorax (PSP) is a disease characterized by the accumulation of air in the pleural space between the lung and thoracic wall. It is more common in young, tall, thin, and asthenic men. A family history was reported for approximately 11.5% of individuals admitted with PSP. The literature has reported cases diagnosed with familial PSP, who have no manifestations of Birt–Hogg–Dubé (BHD) syndrome but mutations in different exons of the Folliculin (FLCN) gene. The aim of this study is to present a Turkish family in which 13 members from three generations of the same family developed recurrent isolated spontaneous pneumothorax with a novel mutation in the FLCN.MethodsA male proband was diagnosed with spontaneous pneumothorax in the emergency department of the University of Health Sciences Haydarpasa Numune Training and Research Center, Istanbul, Turkey. His 12 relatives from three generations diagnosed with PSP, as revealed by his family history, were invited to the hospital to give blood samples for mutation analysis. The Sanger sequence data of FLCN were analyzed on the ENSEMBL website using SeqScape 3 and Codon Aligner software.ResultsA novel heterozygous mutation c. 1273C>T (p.Gln425Ter) was detected in exon 11 of the FLCN, which caused PSP in the proband and his 12 relatives tested using Sanger sequencing.ConclusionWe found that a heterozygous mutation in exon 11 of FLCN c. 1273C>T (p.Gln425Ter), which was identified for the first time in our study, might cause isolated familial spontaneous pneumothorax.