Novel de novo mutation in CRX gene in a Japanese p...[Am J Ophthalmol. 2002]

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1: Am J Ophthalmol. 2002 Sep;134(3):465-7. Links

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

Nakamura M, Ito S, Miyake Y.

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

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 [PubMed - indexed for MEDLINE]

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Review[From gene to disease; Leber congenital amaurosis (LCA)]
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[Ned Tijdschr Geneeskd. 2005]
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