Two novel GJA1 variants in oculodentodigital dysplasia.
Mol Genet Genomic Med
; 7(9): e882, 2019 09.
Article
em En
| MEDLINE
| ID: mdl-31347275
ABSTRACT
BACKGROUND:
Oculodentodigital dysplasia (ODDD) is a rare disorder with pleiotropic effects involving multiple body systems, caused by mutations in the gap junction protein alpha 1 (GJA1) gene. GJA1 gene encodes a polytopic connexin membrane protein, Cx43, that is a component of connexon membrane channels.METHODS:
We describe two unrelated female probands referred for a genetic review in view of a dysmorphic clinical phenotype.RESULTS:
Two novel missense mutations in GJA1 that substitute conserved amino acids in the first and second transmembrane domains (NM_000165.5 c.77T>C p.Leu26Pro and NM_000165.5c.287T>G p.Val96Gly) were detected through targeted sequencing of GJA1. These variants were detected in the heterozygous state in the two Maltese probands and segregated with the disease phenotype.CONCLUSION:
This report further expands the mutational spectrum of ODDD.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Dentárias
/
Deformidades Congênitas do Pé
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Anormalidades do Olho
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Conexina 43
/
Sindactilia
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Anormalidades Craniofaciais
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Mutação de Sentido Incorreto
Limite:
Adult
/
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article