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

ABSTRACT:

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 MITCH case in a Chinese individual.

Case presentation

A 7-year-old girl initially presented with diffuse desquamatory rash at age 3. Her clinical symptoms in order of presentation were diffuse desquamatory rash, gait instability, ptosis with photophobia, hearing loss, abdominal pain, diarrhea, nausea, and dysuria. Genetic analysis demonstrated that the patient carried a

SUBMITTER: Shen M 

PROVIDER: S-EPMC10318832 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature