Novel ABHD12 Mutations in PHARC Patients

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

doi:10.1177/0003489415574513

Novel ABHD12 Mutations in PHARC Patients

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

University Hospital

Research output: Contribution to journal › Article › peer-review

13 Citations (Scopus)

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.

Original language	English
Pages (from-to)	77S-83S
Journal	Annals of Otology, Rhinology and Laryngology
Volume	124
Issue number	1_suppl
DOIs	https://doi.org/10.1177/0003489415574513
Publication status	Published - May 1 2015

Keywords

ABHD12
PHARC
Usher syndrome
deaf-blindness
genetics of hearing loss

ASJC Scopus subject areas

Otorhinolaryngology

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10.1177/0003489415574513

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title = "Novel ABHD12 Mutations in PHARC Patients",

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.",

keywords = "ABHD12, PHARC, Usher syndrome, deaf-blindness, genetics of hearing loss",

author = "Hidekane Yoshimura and Takao Hashimoto and Toshinori Murata and Kunihiro Fukushima and Akiko Sugaya and Nishio, {Shin Ya} and Usami, {Shin Ichi}",

note = "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.).",

year = "2015",

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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.).

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.

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