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

Autor: Xuan X; Department of Neurology, Hangzhou Ninth People's Hospital, Hangzhou, China., Ruan J; Zhejiang Provincial Key Laboratory for Drug Evaluation and Clinical Research, Department of Clinical Pharmacy, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China., Wu C; Department of Neurology, Hangzhou Ninth People's Hospital, Hangzhou, China., Gao Y; Ningbo Medical Center Lihuili Hospital, Ningbo, China., Li L; Department of Neurology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, China., Lei X; First Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming, China.
Jazyk: angličtina
Zdroj: CNS neuroscience & therapeutics [CNS Neurosci Ther] 2024 Mar; Vol. 30 (3), pp. e14425. Date of Electronic Publication: 2023 Nov 06.
DOI: 10.1111/cns.14425
Abstrakt: Background: Mitochondrial 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.
Methods: We screened a Chinese boy with weakness of limbs and his non-consanguineous parents by whole exome sequencing and targeted sequencing.
Results: We 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.
Conclusions: A 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.
(© 2023 The Authors. CNS Neuroscience & Therapeutics published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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