Novel ABHD12 Mutations in PHARC Patients

@article{Yoshimura2015NovelAM,
  title={Novel ABHD12 Mutations in PHARC Patients},
  author={Hidekane Yoshimura and Takao Hashimoto and Toshinori Murata and Kunihiro Fukushima and Akiko Sugaya and Shin-ya Nishio and Shin-ichi Usami},
  journal={Annals of Otology, Rhinology \& Laryngology},
  year={2015},
  volume={124},
  pages={77S - 83S}
}
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… 

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