Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.

ABSTRACT:

Background

Mutations in ABHD12 (OMIM: 613,599) are associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome (OMIM: 612674), which is a rare autosomal recessive neurodegenerative disease. PHARC syndrome is easily misdiagnosed as other neurologic disorders, such as retinitis pigmentosa, Charcot-Marie-Tooth disease, and Refsum disease, due to phenotype variability and slow progression. This paper presents a novel mutation in ABHD12 in two affected siblings with PHARC syndrome phenotypes. In addition, we summarize genotype-phenotype information of the previously reported patients with ABHD12 mutation.

Methods

Following a thorough medical evaluation, whole-exome sequencing was done on the proband to look for potential genetic cause

SUBMITTER: Daneshi A 

PROVIDER: S-EPMC10557151 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature