当前位置： SCI文献检索 > EUROPEAN JOURNAL OF OPHTHALMOLOGY期刊下所有文献 > Norrie disease and exudative vitreoretinopathy in families with affected female carriers.

Norrie disease and exudative vitreoretinopathy in families with affected female carriers.

Abstract：

PURPOSE:Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness, which is often associated with sensorineural hearing loss and mental retardation. X-linked familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by an abnormality of the peripheral retina and is not associated with systemic diseases. X-linked recessive disorders generally do not affect females. Here we show that female carriers can be associated with manifestation of an X-linked disorder. METHODS:A four-generation family with an affected female, and a history of congenital blindness and hearing loss, was identified through the pro-band. A second family, with a full-term female infant, was evaluated through ophthalmic examinations and found to exhibit ocular features, such as retinal folds, retinal detachment and peripheral exudates. Peripheral blood specimens were collected from several affected and unaffected family members. DNA was extracted and analyzed by single-strand conformation polymorphism (SSCP) following polymerase chain reaction (PCR) amplification of the exons of the Norrie disease gene. The amplified products were sequenced by the dideoxy chain termination method. RESULTS:In an X-linked four-generation family, a novel missense (A118D) mutation in the third exon of the Norrie disease gene, was identified. The mutation was transmitted through three generations and cosegregated with the disease. The affected maternal grandmother and the unaffected mother carried the same mutation in one of their alleles. In an unrelated sporadic family, a heterozygous missense mutation (C96Y) was identified in the third exon of the Norrie disease gene in an affected individual. Analysis of exon-1 and 2 of the Norrie disease gene did not reveal any additional sequence alterations in these families. The mutations were not detected in the unaffected family members and the 116 normal unrelated controls, suggesting that they are likely to be the pathogenic mutations. CONCLUSIONS:The results further strengthen the proposal that X-linked disorders can occur in female carriers, due likely to an unfavorable X-inactivation.

journal_name

Eur J Ophthalmol

journal_title

European journal of ophthalmology

authors

Shastry BS,Hiraoka M,Trese DC,Trese MT

doi

10.1177/112067219900900312

subject

Has Abstract

pub_date

1999-07-01 00:00:00

pages

238-42

issue

eissn

1120-6721

issn

1724-6016

journal_volume

pub_type

杂志文章

在线工具

Norrie disease and exudative vitreoretinopathy in families with affected female carriers.