Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness. (May 2015)

• Record Type: Journal Article
• Authors: Yoshimura, Hidekane; Hashimoto, Takao; Murata, Toshinori; Fukushima, Kunihiro; Sugaya, Akiko; Nishio, Shin-ya; Usami, Shin-ichi
• Is Part Of: Annals of otology, rhinology & laryngology. Volume 124:Number 1(2015) Supplement 1
• Page Start: 77S
• Page End: 83S
• Publication Date: 2015-05
• Subjects: PHARC -- ABHD12 -- Usher syndrome -- deaf-blindness -- genetics of hearing loss; Otolaryngology -- Periodicals; 617.51
• DOI: 10.1177/0003489415574513
• Languages: English
• ISSNs: 0003-4894

Abstract

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.