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Article

A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review.

BMC medical genomics - 3 Jul 2023

Shen Mengxiao, Chen Qian, Gao Yanyan, Yan Hongyu, Feng Shuo, Ji Xinna, Zhang Xue

Abstract excerpt

BACKGROUND: Mitchell syndrome (MITCH) is a rare autosomal dominant hereditary disorder, characterized by episodic demyelination, sensorimotor polyneuropathy and hearing loss. MITCH is caused by heterozygous mutation in the ACOX1 gene, which encodes straight-chain acyl-CoA oxidase, on chromosome 17q25.1. Only 5 unrelated patients have been reported so far, and no reports from China. Here, we describe the first...

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PMID: 37400800
DOI: 10.1186/s12920-023-01577-w
PMCID: PMC10318832

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