Association of a Point Mutation(M.9176T>G) of the Mt-Atp6 Genewith Leigh Syndrome: A Case Report Publisher



Khailany RA^{1, 2} ; Gilani N³ ; Ozaslan M³ ; Safdar M⁴ ; Alshamari I⁵ ; Kanabe BO³ ; Saadat KASM⁶ ; Homayounvash J⁷ ; Monfaredan A⁸ ; Alattar MS⁹ ; Arslan A¹⁰
Source: Biomedical Research and Therapy Published:2020

Abstract

Leigh Syndrome (LS) is an uncommon progressive neurodegenerative mitochondrial disorder. The condition is characterized by progressive mental and developmental disabilities (psychomotor regression) and commonly brings about death within a few years of diagnosis, more often due to respiratory failure. In a small number of patients the disorder does not manifest until adulthood. The principal indications of Leigh syndrome found in early stages typically are diarrhea, vomiting, and difficulty swallowing (dysphagia), which disturbs eating. These problems usually result in 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 the 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. © 2020 Biomedpress.