Hidekane Yoshimura1, Takao Hashimoto2, Toshinori Murata3, Kunihiro Fukushima4, Akiko Sugaya5, Shin-Ya Nishio6, Shin-Ichi Usami7. 1. Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan. 2. Department of Neurology, Aizawa Hospital, Matsumoto, Japan. 3. Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto, Japan. 4. Department of Otorhinolaryngology, Fukuoka University School of Medicine, Fukuoka, Japan. 5. Department of Otorhinolaryngology-Head and Neck Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Science, Okayama, Japan. 6. Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Science, Shinshu University School of Medicine, Matsumoto, Japan. 7. Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Science, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.
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.
OBJECTIVE: This study examines ABHD12 mutation analysis in 2 PHARCpatients, 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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