Format

Send to

Choose Destination
See comment in PubMed Commons below
Am J Ophthalmol. 2002 Sep;134(3):465-7.

Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis.

Author information

1
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Japan. makonaka@med.nagoya-u.ac.jp

Abstract

PURPOSE:

To report a novel de novo mutation in the cone-rod homeobox (CRX) gene in a Japanese patient with Leber congenital amaurosis (LCA).

METHODS:

The CRX gene was analyzed by direct genomic sequencing in a patient with LCA and in his healthy parents. A complete ophthalmologic examination was performed on the family.

RESULTS:

A heterozygotic deletion of G at nucleotid 520 in CRX, predicting a frameshift in codon 174 and a premature termination of translation [Ala174(1-bp del)], was identified in the proband. The mutation was not present in his unaffected parents.

CONCLUSION:

A novel de novo mutation in CRX was found in a Japanese patient with LCA.

PMID:
12208271
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center