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Ophthalmic Genet. 2015 Jun;36(2):156-9. doi: 10.3109/13816810.2013.838273. Epub 2013 Oct 4.

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.

Author information

1
Pediatric Ophthalmology and Ocular Genetics, Wills Eye Institute , Philadelphia, PA , USA and.

Abstract

BACKGROUND:

Leber congenital amaurosis (LCA) is most often an autosomal recessive disorder. We report a father and son with autosomal dominant LCA due to a mutation in the CRX gene.

MATERIALS AND METHODS:

DNA screening using an allele specific assay of 90 of the most common LCA-causing variations in the coding sequences of AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12 and RPE65 was performed on the father. Automated DNA sequencing of his son examining exon 3 of the CRX gene was subsequently performed.

RESULTS:

Both father and son have a heterozygous single base pair deletion of an adenine at codon 153 in the coding sequence of the CRX gene resulting in a frameshift mutation.

CONCLUSION:

Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for LCA.

KEYWORDS:

CRX; Leber congenital amaurosis; heterozygous mutation; isoelectric electroretinogram; retinal dystrophy

PMID:
24093488
DOI:
10.3109/13816810.2013.838273
[Indexed for MEDLINE]

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