Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis
Joint Authors
Hosono, Katsuhiro
Harada, Yuko
Kurata, Kentaro
Hikoya, Akiko
Sato, Miho
Minoshima, Shinsei
Hotta, Yoshihiro
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-05-13
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract 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.
American Psychological Association (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
Modern Language Association (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
American Medical Association (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
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1069814