Report of Neuromuscular Patients Diagnosed Using Whole Exome Sequencing in Qeshm Island

Introduction: Neuromuscular disorders are clinically, pathologically and genetically heterogeneous group. Even for the experienced clinician, a definite diagnosis is oftenchallenging due to the complexity of these disorders. Accurate molecular genetic diagnosis can improve clinical management, provides appropriate genetic counseling andtesting of relatives, and allows potential therapeutic trials. Here, we investigated the utility of whole exome sequencing (WES) in early diagnosis of neuromuscular disordersin Qeshm Island. Method: Most patients had history of, neurodevelopmental delay, seizure, mental retardation, vision problems, dysmorphic face and congenital anomalies. Clinical Exmore sequencing, followed by diagnostic interpretation of variants in genes associated with NMDs, was performed for patients suspected to have a neuromuscular genetic cause. Results: From ۱۰ WES performed for patients with neuromuscular diseases ۳ variants were reported previously in other populations but ۶ variants were novel which diagnosed for the first time in Qeshm Island which were segregated in families. In one family with two affected child the genetic cause was not found. Conclusions: Whole exmoe sequencing is a useful tool for early diagnosis of Neuromuscular Disorders especially in regions with high consanguinity. Using this technique concerning the right indications could help in finding new genes responsible for neuromuscular disorders and could be effective in recognizing carriers and guiding them for prenatal iagnosis or PGD resulting in prevention of genetic neuromuscular disorders.

کلیدواژه ها:

Exmoe Sequencing ، Neuromuscular Disorders ، Qeshm.