Abstract
Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones. We collected data of 15 subjects (8 males and 7 females with age range 10–26 years; mean age 16.9 years) with confirmed diagnosis of KS, representing the entire cohort of patients from Campania Region. Each patient performed biochemical testing and instrumental investigation. Neuro-intellectual development, cranio-facial dysmorphisms, and multisystem involvement data were collected retrospectively. For each category, type of defects and frequency of the anomalies were analyzed. Our observation shows that KS patients from Campania region have some particular and previously underscored, neurological and immunological findings. We found high prevalence of EEG’s abnormalities (43%) and MRI brain abnormalities (60%). Microcephaly resulted more common in our series (33%), if compared with major cohorts described in literature. Biochemical features of immunodeficiency and autoimmune diseases including thyroid autoimmunity, polyserositis, and vitiligo were observed with high prevalence (54.5%). Low immunoglobulins levels were a frequent finding. Lymphocyte class investigation showed significantly reduced CD8 levels in one patient.Conclusions: These data confirm great heterogeneity of clinical manifestations in KS and suggest to introduce further clinical diagnostic criteria in order to perform a correct and precocious diagnosis.What is Known• Kabuki syndrome is characterized by growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability• Immune dysfunction is a common finding but autoimmune diseases are rarely seen• Neurological features are commonWhat is New• Some particular facial features could help gestalt diagnosis (hypertelorism, broad nasal bridge, micrognathia, tooth agenesis, cutaneous haemangiomas and strabismus)• Higher prevalence of autoimmune disorders than previously reported• Particular neurological features are present in this cohort (EEG and MRI brain abnormalities)
Highlights
Kabuki syndrome (KS, OMIM # 147920 and 300867) was firstly described by Niikawa and Kuroki [1,2,3] and, over the years, has become a well-recognized multiple congenital anomaly/intellectual disability (ID) disorder
Kabuki syndrome is characterized by growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability
Particular neurological features are present in this cohort (EEG and magnetic resonance imaging (MRI) brain abnormalities)
Summary
Kabuki syndrome (KS, OMIM # 147920 and 300867) was firstly described by Niikawa and Kuroki [1,2,3] and, over the years, has become a well-recognized multiple congenital anomaly/intellectual disability (ID) disorder. The lysine (K)-specific methyltransferase 2 family (KMT2 AE), originally named the myeloid/lymphoid or mixed-lineage leukemia (MLL1-5) proteins, regulates the expression of genes involved in embryogenesis and development. KMT2D (12q13.12, known as MLL2, OMIM *602113) was the first gene associated with KS [5,6,7,8,9], and most KS patients bear KMT2D gene mutations. A minority of patients have mutations or deletions of KDM6A (Xp11.3, OMIM *300128), which takes part of the same transcription complex as KMT2D [10,11,12,13,14,15,16]. Potential genetic defects remain unknown in about 30% of patients clinically diagnosed with KS [17]
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