Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes.
Adv Exp Med Biol
; 801: 177-83, 2014.
Article
em En
| MEDLINE
| ID: mdl-24664696
ABSTRACT
Genetic mechanisms underlying severe retinal dystrophy in a large Swedish family presenting two distinct phenotypes, Leber congenital amaurosis and Stargardt disease were investigated. In the family, four patients with Leber congenital amaurosis were homozygous for a novel c.2557C>T (p.Q853X) mutation in the CRB1 gene, while of two cases with Stargardt disease, one was homozygous for c.5461-10T>C in the ABCA4 gene and another was a compound heterozygous for c.5461-10T>C and a novel ABCA4 mutation c.4773+3 A>G. Sequence analysis of the entire ABCA4 gene in patients with Stargardt disease revealed complex alleles with additional sequence variants.Our results provide evidence of genetic complexity causative of different clinical features present in the same family, which is an obvious challenge for ophthalmologists, molecular geneticists and genetic counsellors.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Transportadores de Cassetes de Ligação de ATP
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Proteínas do Olho
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Amaurose Congênita de Leber
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Proteínas de Membrana
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Proteínas do Tecido Nervoso
Limite:
Adult
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Child
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Female
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Humans
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Male
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article