RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa
المؤلفون المشاركون
Katagiri, Satoshi
Hayashi, Takaaki
Akahori, Masakazu
Itabashi, Takeshi
Yoshitake, Kazutoshi
Furuno, Masaaki
Ikeo, Kazuho
Okada, Tetsuji
Tsuneoka, Hiroshi
Nishino, Jo
Iwata, Takeshi
المصدر
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-10، 10ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-11-16
دولة النشر
مصر
عدد الصفحات
10
التخصصات الرئيسية
الملخص EN
Purpose.
To investigate genetic and clinical features of patients with rhodopsin (RHO) mutations in two Japanese families with autosomal dominant retinitis pigmentosa (adRP).
Methods.
Whole-exome sequence analysis was performed in ten adRP families.
Identified RHO mutations for the cosegregation analysis were confirmed by Sanger sequencing.
Ophthalmic examinations were performed to evaluate the RP phenotypes.
The impact of the RHO mutation on the rhodopsin conformation was examined by molecular modeling analysis.
Results.
In two adRP families, we identified two RHO mutations (c.377G>T (p.W126L) and c.1036G>C (p.A346P)), one of which was novel.
Complete cosegregation was confirmed for each mutation exhibiting the RP phenotype in both families.
Molecular modeling predicted that the novel mutation (p.W126L) might impair rhodopsin function by affecting its conformational transition in the light-adapted form.
Clinical phenotypes showed that patients with p.W126L exhibited sector RP, whereas patients with p.A346P exhibited classic RP.
Conclusions.
Our findings demonstrated that the novel mutation (p.W126L) may be associated with the phenotype of sector RP.
Identification of RHO mutations is a very useful tool for predicting disease severity and providing precise genetic counseling.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Katagiri, Satoshi& Hayashi, Takaaki& Akahori, Masakazu& Itabashi, Takeshi& Nishino, Jo& Yoshitake, Kazutoshi…[et al.]. 2014. RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa. Journal of Ophthalmology،Vol. 2014, no. 2014, pp.1-10.
https://search.emarefa.net/detail/BIM-1042433
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Katagiri, Satoshi…[et al.]. RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa. Journal of Ophthalmology No. 2014 (2014), pp.1-10.
https://search.emarefa.net/detail/BIM-1042433
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Katagiri, Satoshi& Hayashi, Takaaki& Akahori, Masakazu& Itabashi, Takeshi& Nishino, Jo& Yoshitake, Kazutoshi…[et al.]. RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa. Journal of Ophthalmology. 2014. Vol. 2014, no. 2014, pp.1-10.
https://search.emarefa.net/detail/BIM-1042433
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1042433
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر