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https://www.um.edu.mt/library/oar/handle/123456789/93128
Title: | Two novel GJA1 variants in oculodentodigital dysplasia |
Authors: | Pace, Nikolai Paul Benoit, Valerie Agius, David Grima, Maria Angela Parascandalo, Raymond Hilbert, Pascale Borg, Isabella |
Keywords: | Connexin 43 Genes |
Issue Date: | 2019 |
Publisher: | Wiley Periodicals, Inc. |
Citation: | Pace, N. P., Benoit, V., Agius, D., Grima, M. A., Parascandalo, R., Hilbert, P., & Borg, I. (2019). Two novel GJA1 variants in oculodentodigital dysplasia. Molecular Genetics & Genomic Medicine, 7(9), e882. |
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. |
URI: | https://www.um.edu.mt/library/oar/handle/123456789/93128 |
Appears in Collections: | Scholarly Works - FacM&SAna |
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Two_novel_GJA1_variants_in_oculodentodigital_dysplasia.pdf | 669.46 kB | Adobe PDF | View/Open |
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