Akademik Veri Yönetim Sistemi
European Human Genetics Virtual Conference 2020, 6 Haziran - 09 Eylül 2020, (Özet Bildiri)
Introduction: Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facies (long palpebral fissures with eversion of the lateral portion of the lower eyelid and large ears), persistent fetal finger pads and intellectual disability (ID). It is caused by heterozygous mutations in KMT2D (56-75%) or KDM6A (3-8%) genes. We investigated clinical and molecular findings of 23 patients diagnosed with KS. Methods: Twenty-three patients clinically were enrolled. Exons and exon-intron boundaries of KMT2D and KDM6A were studied by Sanger sequencing method. Results: We detected different pathogenic mutations (five missense, four nonsense,five small deletion, one small insertion, one splicing) in KMT2D gene in 16 patients (69.6%), seven of them were novel. None of patients had a mutation in KDM6A gene. All of the patients had typical facial features, fetal finger pads and ID (6 severe, 17 mild). The patients also had short stature (11/23), renal anomalies (11/23), congenital heart defects (CHD) (11/23), cleft palate (5/23), epilepsy (8/23), abnormal brain MRI findings (6/23), congenital hypothyroidism (6/23) and premature thelarche (2/23). Conclusions: Up to date 829 different mutations in KMT2D gene have been reported. This study also revealed that novel mutations are common in KMT2D gene. The absence of mutations in 30.4% of patients points genetic heterogeneity and the need to investigate indels and new candidate genes. In addition, while patients with KMT2D gene mutations have CHD and renal abnormalities, the absence of those without mutations supports the effect of KMT2D gene on heart and kidney development.