A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review

Abstract

AbstractBackgroundMitochondrial complex III (CIII) deficiency is an autosomal recessive disease characterized by symptoms such as ataxia, cognitive dysfunction, and spastic paraplegia. Multiple genes are associated with complex III defects. Among them, the mutation of TTC19 is a rare subtype.MethodsWe screened a Chinese boy with weakness of limbs and his non‐consanguineous parents by whole exome sequencing and targeted sequencing.ResultsWe report a Chinese boy diagnosed with mitochondrial complex III defect type 2 carrying a homozygous variant (c.719‐732del, p.Leu240Serfs*17) of the TTC19 gene. According to the genotype analysis of his family members, this is an autosomal recessive inheritance. We provide his clinical manifestation.ConclusionsA new type of TTC19 mutation (c.719‐732del, p.Leu240Serfs*17) was found, which enriched the TTC19 gene mutation spectrum and provided new data for elucidating the pathogenesis of CIII‐deficient diseases.