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 | |
| Publication status | Published - May 1 2015 |
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Keywords
- ABHD12
- deaf-blindness
- genetics of hearing loss
- PHARC
- Usher syndrome
ASJC Scopus subject areas
- Otorhinolaryngology
- Medicine(all)
Cite this
Novel ABHD12 Mutations in PHARC Patients. / Yoshimura, Hidekane; Hashimoto, Takao; Murata, Toshinori; Fukushima, Kunihiro; Sugaya, Akiko; Nishio, Shin Ya; Usami, Shin Ichi.
In: Annals of Otology, Rhinology and Laryngology, Vol. 124, No. 1_suppl, 01.05.2015, p. 77S-83S.Research output: Contribution to journal › Article
}
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
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 - deaf-blindness
KW - genetics of hearing loss
KW - PHARC
KW - Usher syndrome
UR - http://www.scopus.com/inward/record.url?scp=84939456564&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84939456564&partnerID=8YFLogxK
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 -