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Article

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

Journal of the neurological sciences - 15 Apr 2018

Frasquet Marina, Lupo Vincenzo, Chumillas María José, Vázquez-Costa Juan Francisco, Espinós Carmen, Sevilla Teresa

Abstract excerpt

PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation,...

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Identifiers

PMID: 29571850
DOI: 10.1016/j.jns.2018.02.021

Genes

ABHD12

Variants

Provenance

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