[doi: 10.5505/2017ichc.PP-217]A point mutation detection of MT-ATP6 gene in Leigh syndrome: A case reportNaser Gilani1, Rozhgar A. Khailany1, Javad Homayounvash2, Mehri Igci1, Ihsan Al Shamari3, Amir Ariamand2, Amir Monfaredan2, Khandakar A. S. M. Saadat1, Ahmet Arslan42Farabi Medical Laboratory, Erbil, Iraq 3College of Medicine, Erbil Medical University, Erbil, Iraq 4Department of Medical Biology, Faculty of Medicine, Namık Kemal University, Tekirdag, Turkey Leigh Syndrome (LS) is an uncommon progressive neurodegenerative, mitochondrial disorder. The condition is characterized by a progressive mental and developmental disabilities (psychomotor regression) and commonly brings about death inside a few years of diagnosis, more often due to respiratory failure. A little number of patients do not create manifestations until adulthood. The principal indications of Leigh syndrome found in early stages are typically diarrhea, vomiting and difficulty swallowing (dysphagia), which disturbs eating. These problems usually result in a powerlessness to develop and put on weight under the normal rate (failure to thrive). Serious movement and muscle problems are basic in Leigh syndrome. In this case report, we introduce the molecular and clinical features of a 19-year-old female as proband and also we study other members of the family consequently. The m.9176T> G heteroplasmic mutation in MT-ATP6 gene was detected by high resolution melt (HRM) and DNA sequencing techniques. Similarly, the m.9176T> G was heteroplasmic in the mother. In conclusion, this report in compliance with previous studies, underlines the necessity of further research on prenatal distinguishing proof of the responsible mutations and avoidance of the disease in families with known cases. |