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X-Linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene.

Abstract：

:X-linked juvenile retinoschisis (RS) is a bilateral vitreoretinal disorder with no known cure. The gene responsible for the disease was recently isolated by positional cloning methods and a spectrum of mutations has been described in families with RS pathology. In this report, we screened six sporadic cases of RS for mutations in the RS gene to understand the etiology of isolated cases. Our extensive studies revealed a novel 4 bp insertion in one family and the remaining families did not show mutations in the RS gene. This mutation altered the reading frame including codon 55 resulting in nine aberrant amino acid residues. The unaffected mother did not contain this mutation. Additionally, it was not found in 60 normal control chromosomes, suggesting that the insertion mutation is disease related in the family analyzed.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Hiraoka M,Trese MT,Shastry BS

doi

10.1006/bbrc.2000.2133

subject

Has Abstract

pub_date

2000-02-16 00:00:00

pages

370-2

issue

2

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(00)92133-8

journal_volume

268

pub_type

杂志文章

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