Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient

Abstract

Key Clinical Message In 1‐year‐old girl presenting with neurodegenerative mitochondrial disease (Leigh syndrome), mutation analysis was performed by whole exome sequencing. Pathogenic variants were then analyzed in parents and relatives by Sanger sequencing. We identified a point mutation c.G484A in NDUFS8 gene which was homozygous in patient and heterozygous in parents.

Keywords

• Leigh syndrome
• mitochondrial disease
• whole exome sequencing