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

J Neurol Sci. 2018 Apr 15:387:134-138. doi: 10.1016/j.jns.2018.02.021. Epub 2018 Feb 7.


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.

Keywords: ABHD12 gene; Charcot-Marie-Tooth disease; Deaf-blindness; PHARC; Usher syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ataxia / diagnosis*
  • Ataxia / genetics*
  • Ataxia / pathology
  • Brain / diagnostic imaging
  • Cataract / diagnosis*
  • Cataract / genetics*
  • Cataract / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Monoacylglycerol Lipases / genetics*
  • Muscle, Skeletal / diagnostic imaging
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Polyneuropathies / diagnosis*
  • Polyneuropathies / genetics*
  • Polyneuropathies / pathology
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology
  • Spain


  • ABHD12 protein, human
  • Monoacylglycerol Lipases

Supplementary concepts

  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract