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.

• Authors: Nikolai P Pace, Valerie Benoit, David Agius, Maria Angela Grima, Raymond Parascandalo, Pascale Hilbert, Isabella Borg
• Journal: Molecular genetics & genomic medicine (Mol Genet Genomic Med) Vol. 7 Issue 9 Pg. e882 (09 2019) ISSN: 2324-9269 [Electronic] United States
• PMID: 31347275 (Publication Type: Case Reports, Clinical Trial, Journal Article)
• Copyright: © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Chemical References

• Connexin 43
• GJA1 protein, human

Topics

• Adult
• Amino Acid Substitution
• Child
• Connexin 43 (genetics)
• Craniofacial Abnormalities (diagnostic imaging, genetics, pathology)
• Eye Abnormalities (diagnostic imaging, genetics, pathology)
• Female
• Foot Deformities, Congenital (diagnostic imaging, genetics, pathology)
• Humans
• Mutation, Missense
• Syndactyly (diagnostic imaging, genetics, pathology)
• Tooth Abnormalities (diagnostic imaging, genetics, pathology)