Novel Mutations in Norrie Disease Gene in Japanese Patients with Norrie Disease and Familial Exudative Vitreoretinopathy

2007 ◽  
Vol 48 (3) ◽  
pp. 1276 ◽  
Author(s):  
Hiroyuki Kondo ◽  
Minghui Qin ◽  
Shunji Kusaka ◽  
Tomoko Tahira ◽  
Haruyuki Hasebe ◽  
...  
Keyword(s):  
Disease Gene ◽  
Japanese Patients ◽  
Novel Mutations ◽  
Norrie Disease ◽  
Familial Exudative Vitreoretinopathy

scholarly journals A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy

Eye ◽  
2011 ◽  
Vol 25 (12) ◽  
pp. 1658-1658 ◽  
Author(s):  
S Chamney ◽  
E McLoone ◽  
C E Willoughby
Keyword(s):  
Disease Gene ◽  
Norrie Disease ◽  
Familial Exudative Vitreoretinopathy

A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathy

1993 ◽  
Vol 5 (2) ◽  
pp. 180-183 ◽  
Author(s):  
Z-Y. Chen ◽  
E.M. Battinelli ◽  
A. Fielder ◽  
S. Bundey ◽  
K. Sims ◽  
...  
Keyword(s):  
Disease Gene ◽  
Norrie Disease ◽  
Familial Exudative Vitreoretinopathy

scholarly journals Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Li-Yun Jia ◽  
Kai Ma
Keyword(s):  
Disease Gene ◽  
Direct Sequencing ◽  
Venous Blood ◽  
Gene Mutations ◽  
Chinese Patients ◽  
Control Group ◽  
Coding Region ◽  
Exon 2 ◽  
Norrie Disease ◽  
Familial Exudative Vitreoretinopathy

Abstract Purpose This study aims to analyze the Norrie disease gene (NDP) variants in patients with familial exudative vitreoretinopathy (FEVR) and their clinical features. Methods Thirty-three Chinese patients (22 familial and 11 simplex) who were diagnosed as FEVR underwent detailed ocular examinations in Beijing Tongren Hospital. Peripheral venous blood was drawn from the patients and their family members for the extraction of genomic DNA. All exons of NDP gene were analyzed by direct sequencing of PCR-amplified DNA fragments. Results Four novel mutations in NDP gene were identified in four X-linked FEVR families: a C → T transversion, c. 625C → T, in exon 3, resulting in a serine-to-proline change in codon 73 (S73P); a C → G transition, c. 751C → G, in exon 3, resulting in an arginine-to-glycine change in codon 115 (R115G); a T → C transversion of nucleotide 331 at 5’UTR in exon 2 (c.331 T → C); and a C → T transversion of the nucleotide 5 in intron 1 (IVS1 + 5C → T). The mutations were not present in the control group (n = 100). Conclusions Our results extend the spectrum of NDP gene mutations. The mutations in the non-coding region of NDP may play a crucial role in the pathogenesis of FEVR.

Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype

1996 ◽  
Vol 17 (4) ◽  
pp. 187-191 ◽  
Author(s):  
M. Caballero ◽  
A. Veske ◽  
J. J. Rodriguez ◽  
N. Lugo ◽  
B. Schroeder ◽  
...  
Keyword(s):  
Disease Gene ◽  
Novel Mutations ◽  
Norrie Disease

Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks

2009 ◽  
Vol 380 (3) ◽  
pp. 548-553 ◽  
Author(s):  
Naoyuki Sato ◽  
Tomohiro Nakayama ◽  
Yoshihiro Mizutani ◽  
Mitsuko Yuzawa
Keyword(s):  
Japanese Patients ◽  
Angioid Streaks ◽  
Novel Mutations ◽  
Abcc6 Gene

The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3

1992 ◽  
Vol 1 (2) ◽  
pp. 83-89 ◽  
Author(s):  
K.B. Sims ◽  
R.V. Lebo ◽  
G. Benson ◽  
C. Shalish ◽  
D. Schuback ◽  
...  
Keyword(s):  
Disease Gene ◽  
Norrie Disease ◽  
Gene Maps
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