Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness

作者：Yoshimura Hidekane; Hashimoto Takao; Murata Toshinori; Fukushima Kunihiro; Sugaya Akiko; Nishio Shin ya; Usami Shin ichi^*

来源：Annals of Otology, Rhinology and Laryngology, 2015, 124(1_suppl): 77S-83S.

DOI：10.1177/0003489415574513

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

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.

• 出版日期2015-5