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Article

Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.

Molecular genetics & genomic medicine - 1 Mar 2020

Neighbors Addison, Moss Tonya, Holloway Lynda, Yu Seok-Ho, Annese Fran, Skinner Steve, Saneto Russell, Steet Richard

Abstract excerpt

BACKGROUND: The rare, X-linked neurodegenerative disorder, Mohr-Tranebjaerg syndrome (also called deafness-dystonia-optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dystonia, early-onset deafness, and various other neurological manifestations. The TIMM8A gene product localizes to the intermembrane space in mitochondria where it functions in the...

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Identifiers

PMID: 31903733
DOI: 10.1002/mgg3.1121
PMCID: PMC7057109

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