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Two novel GJA1 variants in oculodentodigital dysplasia.

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_000165.5:c.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.

SUBMITTER: Pace NP

PROVIDER: S-EPMC6732303 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Two novel GJA1 variants in oculodentodigital dysplasia.

Pace Nikolai P NP Benoit Valerie V Agius David D Grima Maria Angela MA Parascandalo Raymond R Hilbert Pascale P Borg Isabella I

Molecular genetics & genomic medicine 20190725 9

<h4>Background</h4>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.<h4>Methods</h4>We describe two unrelated female probands referred for a genetic review in view of a dysmorphic clinical phenotype.<h4>Results</h4>Two novel missense mutations in GJA1 tha ...[more]

PMID: 31347275

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