TY - JOUR
T1 - Novel ABHD12 Mutations in PHARC Patients
AU - Yoshimura, Hidekane
AU - Hashimoto, Takao
AU - Murata, Toshinori
AU - Fukushima, Kunihiro
AU - Sugaya, Akiko
AU - Nishio, Shin Ya
AU - Usami, Shin Ichi
N1 - Funding Information:
The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This study was supported by a Health and Labour Sciences Research Grant for Research on Rare and Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Labour and Welfare of Japan (S.U.), and by a Grant-in-Aid for Scientific Research from the Ministry of Education, Science and Culture of Japan (S.U.).
Publisher Copyright:
© SAGE Publications.
PY - 2015/5/1
Y1 - 2015/5/1
N2 - 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.
AB - 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.
KW - ABHD12
KW - PHARC
KW - Usher syndrome
KW - deaf-blindness
KW - genetics of hearing loss
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U2 - 10.1177/0003489415574513
DO - 10.1177/0003489415574513
M3 - Article
C2 - 25743180
AN - SCOPUS:84939456564
VL - 124
SP - 77S-83S
JO - Annals of Otology, Rhinology and Laryngology
JF - Annals of Otology, Rhinology and Laryngology
SN - 0003-4894
IS - 1_suppl
ER -