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.
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.
Authors: Alex Silva da Cruz; Danilo Conrado Silva; Lysa Bernardes Minasi; Larissa Kamídia de Farias Teixeira; Flávia Melo Rodrigues; Claudio Carlos da Silva; Adriana Santana do Carmo; Marcos Vinicius Gualberto Barbosa da Silva; Yuri Tani Utsunomiya; José Fernando Garcia; Aparecido Divino da Cruz Journal: Front Genet Date: 2021-01-15 Impact factor: 4.599