Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son. (June 2015)

• Record Type: Journal Article
• Authors: Arcot Sadagopan, Karthikeyan; Battista, Robert; Keep, Rosanne B.; Capasso, Jenina E.; Levin, Alex V.
• Is Part Of: Ophthalmic genetics. Volume 36:Number 2(2015:Jun.)
• Page Start: 156
• Page End: 159
• Publication Date: 2015-06
• Subjects: Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2013.838273
• Languages: English
• ISSNs: 1381-6810

Abstract

<abstract> <title>Abstract</title> <p> <italic>Background</italic>: 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.</p> <p> <italic>Materials and Methods</italic>: 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.</p> <p> <italic>Results</italic>: 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.</p> <p> <italic>Conclusion</italic>: Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for LCA.</p> </abstract>