Identification of the gene for Nance-Horan syndrome (NHS).

ABSTRACT:

Background

The disease intervals for Nance-Horan syndrome (NHS [MIM 302350]) and X linked congenital cataract (CXN) overlap on Xp22.

Objective

To identify the gene or genes responsible for these diseases.

Methods

Families with NHS were ascertained. The refined locus for CXN was used to focus the search for candidate genes, which were screened by polymerase chain reaction and direct sequencing of potential exons and intron-exon splice sites. Genomic structures and homologies were determined using bioinformatics. Expression studies were undertaken using specific exonic primers to amplify human fetal cDNA and mouse RNA.

Results

A novel gene NHS, with no known function, was identified as causative for NHS. Protein truncating mutations were detected in all three NHS

SUBMITTER: Brooks SP 

PROVIDER: S-EPMC1735593 | biostudies-literature | 2004 Oct

REPOSITORIES: biostudies-literature