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

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

Fecha de publicación:

Autores de CIPF

Participantes ajenos a CIPF

  • Frasquet, M
  • Chumillas, MJ
  • Vazquez-Costa, JF
  • Sevilla, T

Grupos de Investigación

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_223de1 (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.

Datos de la publicación

ISSN/ISSNe:
0022-510X, 1878-5883

JOURNAL OF THE NEUROLOGICAL SCIENCES  ELSEVIER SCIENCE BV

Tipo:
Article
Páginas:
134-138
PubMed:
29571850

Citas Recibidas en Web of Science: 20

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Keywords

  • Charcot-Marie-Tooth disease; ARLID12 gene; PHARC; Deaf-blindness; Usher syndrome

Campos de Estudio

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