A novel missense Norrie disease mutation associated with a severe ocular phenotype

被引：4

作者：

Khan, AO

Shamsi, FA

Al-Saif, A

Kambouris, M

机构：

[1] King Khalid Eye Specialist Hosp, Riyadh 11462, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia

来源：

JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS | 2004年 / 41卷 / 06期

关键词：

D O I：

10.3928/01913913-20041101-10

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Clinical findings and pedigree analysis led to the diagnosis of severe Norrie disease in two brothers. DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. Less severe retinal developmental disease may be associated with milder mutations in the Norrie disease gene.

引用

页码：361 / 363

页数：3

共 50 条

[1] Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype
Caballero, M
Veske, A
Rodriguez, JJ
Lugo, N
Schroeder, B
Hesse, L
Gal, A
OPHTHALMIC GENETICS, 1996, 17 (04): : 187 - 191
[2] Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene
Zaremba, J
Feil, S
Juszko, J
Myga, W
van Duijnhoven, G
Berger, W
OPHTHALMIC GENETICS, 1998, 19 (03): : 157 - 164
[3] A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms
Lev, Dorit
Weigl, Yuval
Hasan, Mariana
Gak, Eva
Davidovich, Michael
Vinkler, Chana
Leshinsky-Silver, Esther
Lerman-Sagie, Tally
Watemberg, Nathan
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (09) : 921 - 924
[4] Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family
Talebi, Farah
Mardasi, Farideh Ghanbari
Asl, Javad Mohammadi
Lashgari, Ali
Farhadi, Freidoon
CELL JOURNAL, 2018, 20 (02) : 290 - 292
[5] A novel mutation in the Norrie disease gene
Ott, S
Patel, RJ
Apukuttan, B
Wang, XG
Stout, JT
JOURNAL OF AAPOS, 2000, 4 (02): : 125 - 126
[6] Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy
Shastry, BS
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1998, 246 (01) : 35 - 38
[7] Two Thai families with Norrie disease (ND): Association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier
Yamada, K
Limprasert, P
Ratanasukon, M
Tengtrisorn, S
Yingchareonpukdee, J
Vasiknsenonte, P
Kitaoka, T
Ghadami, M
Niikawa, N
Kishino, T
AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 100 (01): : 52 - 55
[8] Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree
Jiang, Keke
Wang, Shuying
Sun, Huixin
Peng, Chuanzhi
Li, Nan
Li, Shuchan
Gao, Rongyu
Zhang, Jie
MOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (01):
[9] OCULAR FINDINGS ASSOCIATED WITH A CYS39ARG MUTATION IN THE NORRIE DISEASE GENE
JOOS, KM
KIMURA, AE
VANDENBURGH, K
BARTLEY, JA
STONE, EM
ARCHIVES OF OPHTHALMOLOGY, 1994, 112 (12) : 1574 - 1579
[10] A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease
Li Fangting
Huang Lvzhen
Li Xiaoxin
ACTA OPHTHALMOLOGICA, 2016, 94 (06) : E516 - E517

← 1 2 3 4 5 →