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Article

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.

Journal of the peripheral nervous system : JPNS - 1 Jun 2017

Lerat Justine, Cintas Pascal, Beauvais-Dzugan Hélène, Magdelaine Corinne, Sturtz Franck, Lia Anne-Sophie

Abstract excerpt

PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in ABHD12 (α-β hydrolase domain 12), of which several have been described. We report here a new complex...

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Source

Identifiers

PMID: 28448692
DOI: 10.1111/jns.12216

Genes

ABHD12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.PMID 28448692Read ↗

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