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

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 vari...

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Bibliographic Details
Published in:Ophthalmic genetics 2015-06, Vol.36 (2), p.156-159
Main Authors: Arcot Sadagopan, Karthikeyan, Battista, Robert, Keep, Rosanne B., Capasso, Jenina E., Levin, Alex V.
Format: Article
Language:English
Subjects:
Adult
DNA Mutational Analysis
Exons - genetics
Fathers
Genes, Dominant
Genotype
Homeodomain Proteins - genetics
Humans
Infant
Leber Congenital Amaurosis - diagnosis
Leber Congenital Amaurosis - genetics
Male
Mutation
Nuclear Family
Pedigree
Sequence Analysis, DNA
Trans-Activators - genetics
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Summary: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.
ISSN:1381-6810
1744-5094
DOI:10.3109/13816810.2013.838273