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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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