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Two novel GJA1 variants in oculodentodigital dysplasia.
Mol Genet Genomic Med. 2019 09; 7(9):e882.MG

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+Show Affiliations

Centre for Molecular Medicine and Biobanking, University of Malta, Msida, Malta.Département de Biologie Moléculaire, Institut de Pathologie et de Génétique ASBL, Gosselies, Belgium.Department of Ophthalmology, Mater Dei Hospital, Msida, Malta.Department of Medicine, Mater Dei Hospital, Msida, Malta.Department of Pediatrics, Mater Dei Hospital, Msida, Malta.Département de Biologie Moléculaire, Institut de Pathologie et de Génétique ASBL, Gosselies, Belgium.Centre for Molecular Medicine and Biobanking, University of Malta, Msida, Malta. Department of Pathology, Faculty of Medicine and Surgery, University of Malta, Msida, Malta. Medical Genetics Unit, Department of Pathology, Mater Dei Hospital, Msida, Malta.

Pub Type(s)

Case Reports
Clinical Trial
Journal Article

Language

eng

PubMed ID

31347275

Citation

Pace, Nikolai P., et al. "Two Novel GJA1 Variants in Oculodentodigital Dysplasia." Molecular Genetics & Genomic Medicine, vol. 7, no. 9, 2019, pp. e882.
Pace NP, Benoit V, Agius D, et al. Two novel GJA1 variants in oculodentodigital dysplasia. Mol Genet Genomic Med. 2019;7(9):e882.
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. https://doi.org/10.1002/mgg3.882
Pace NP, et al. Two Novel GJA1 Variants in Oculodentodigital Dysplasia. Mol Genet Genomic Med. 2019;7(9):e882. PubMed PMID: 31347275.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two novel GJA1 variants in oculodentodigital dysplasia. AU - Pace,Nikolai P, AU - Benoit,Valerie, AU - Agius,David, AU - Grima,Maria Angela, AU - Parascandalo,Raymond, AU - Hilbert,Pascale, AU - Borg,Isabella, Y1 - 2019/07/25/ PY - 2019/05/15/received PY - 2019/07/05/revised PY - 2019/07/08/accepted PY - 2019/7/28/pubmed PY - 2020/6/18/medline PY - 2019/7/27/entrez KW - GJA1 gene KW - connexin 43 KW - oculodentodigital dysplasia SP - e882 EP - e882 JF - Molecular genetics & genomic medicine JO - Mol Genet Genomic Med VL - 7 IS - 9 N2 - 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. SN - 2324-9269 UR - https://www.unboundmedicine.com/medline/citation/31347275/Two_novel_GJA1_variants_in_oculodentodigital_dysplasia_ L2 - https://doi.org/10.1002/mgg3.882 DB - PRIME DP - Unbound Medicine ER -