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

Abstract：

: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, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. We herein describe the complete clinical picture of these two patients, and focus particularly on neuropathy characteristics. This study supports the fact that although PHARC is rare, its phenotype is very characteristic and we should include its study in patients affected with demyelinating polyneuropathy, hearing loss and retinopathy.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Frasquet M,Lupo V,Chumillas MJ,Vázquez-Costa JF,Espinós C,Sevilla T

doi

10.1016/j.jns.2018.02.021

subject

Has Abstract

pub_date

2018-04-15 00:00:00

pages

134-138

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(18)30079-0

journal_volume

387

pub_type

杂志文章

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