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

被引：5

作者：

Caballero, M ^{[1
]}

Veske, A ^{[1
]}

Rodriguez, JJ ^{[1
]}

Lugo, N ^{[1
]}

Schroeder, B ^{[1
]}

Hesse, L ^{[1
]}

Gal, A ^{[1
]}

机构：

[1] UNIV KRANKENHAUS EPPENDORF,INST HUMANGENET,D-22529 HAMBURG,GERMANY

来源：

OPHTHALMIC GENETICS | 1996年 / 17卷 / 04期

关键词：

Norrie disease; X chromosome; blindness; gene mutation; start codon; norrin;

D O I：

10.3109/13816819609057892

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness due to a degenerative and proliferative dysplasia of the neuroretina and, occasionally, by deafness and mental handicap. Here, we report two novel mutations detected in patients with the classical eye features of ND. Both the one-base pair insertion in exon II (544/545 insA) and the two-base pair deletion in the start codon (418delTG) of the ND gene predict a functional 'null allele', i.e. the complete absence of the corresponding gene product.

引用

页码：187 / 191

页数：5