Novel ABHD12 Mutations in PHARC Patients

Hidekane Yoshimura, Takao Hashimoto, Toshinori Murata, Kunihiro Fukushima, Akiko Sugaya, Shin Ya Nishio, Shin Ichi Usami

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)


Objective: This study examines ABHD12 mutation analysis in 2 PHARC patients, originally thought to be Usher syndrome. Methods: The ABHD12 gene of 2 patients, who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems, were sequenced. Results: We identified that both cases carried the same novel splice site mutation in the ABHD12 gene. However, 1 had epilepsy and the other had peripheral neuropathy. Based on haplotype analysis, the mutation is likely not a hot spot, but rather could be attributable to a common ancestor. Conclusion: This study shows that PHARC has phenotypic variability, even within a family, which is consistent with previous reports. Differential diagnosis of "deaf-blindness" diseases is crucial. Confirming the presence of associated symptoms is necessary for differentiating some deaf-blindness syndromes. In addition, mutation analysis is a useful tool for confirming the diagnosis.

Original languageEnglish
Pages (from-to)77S-83S
JournalAnnals of Otology, Rhinology and Laryngology
Issue number1_suppl
Publication statusPublished - May 1 2015


  • ABHD12
  • Usher syndrome
  • deaf-blindness
  • genetics of hearing loss

ASJC Scopus subject areas

  • Otorhinolaryngology


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