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Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis
المؤلفون المشاركون
Hosono, Katsuhiro
Harada, Yuko
Kurata, Kentaro
Hikoya, Akiko
Sato, Miho
Minoshima, Shinsei
Hotta, Yoshihiro
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-10، 10ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-05-13
دولة النشر
مصر
عدد الصفحات
10
التخصصات الرئيسية
الملخص EN
Purpose.
Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary retinal dystrophies.
This study was conducted to investigate genetic and clinical features of LCA in a set of Japanese male twins with LCA.
Methods.
To identify causative mutations, 74 genes known to cause RP or LCA were examined by targeted-next generation sequencing (NGS).
Targeted-NGS was performed using a custom designed Agilent HaloPlex target enrichment kit with Illumina Miseq sequencer.
Identified potential pathogenic mutations were confirmed using Sanger sequencing.
Clinical analyses were based on ophthalmic examination, fundus photography, and electroretinography (ERG).
Results.
Compound heterozygous GUCY2D mutations of novel splicing mutation c.2113+2_2113+3insT and novel missense mutation p.L905P were detected in both twins.
Their father and mother were heterozygous for c.2113+2_2113+3insT and p.L905P, respectively.
The twins had phenotypic features similar to those previously reported in patients with GUCY2D mutations.
This included early childhood onset of visual loss, nystagmus, unrecordable ERG, photophobia, and hyperopia.
Conclusions.
To the best of our knowledge, this is the first report of genetic and clinical features of Japanese LCA twins with GUCY2D mutation, which were detected using targeted-NGS.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Hosono, Katsuhiro& Harada, Yuko& Kurata, Kentaro& Hikoya, Akiko& Sato, Miho& Minoshima, Shinsei…[et al.]. 2015. Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. Journal of Ophthalmology،Vol. 2015, no. 2015, pp.1-10.
https://search.emarefa.net/detail/BIM-1069814
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Hosono, Katsuhiro…[et al.]. Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. Journal of Ophthalmology No. 2015 (2015), pp.1-10.
https://search.emarefa.net/detail/BIM-1069814
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Hosono, Katsuhiro& Harada, Yuko& Kurata, Kentaro& Hikoya, Akiko& Sato, Miho& Minoshima, Shinsei…[et al.]. Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. Journal of Ophthalmology. 2015. Vol. 2015, no. 2015, pp.1-10.
https://search.emarefa.net/detail/BIM-1069814
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1069814
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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