Craniofacial and Neurological Phenotype in a Case of Oculodentodigital Syndrome.
Connexin-43
Hearing loss
Leukodystrophy
Oculodentodigital syndrome
Journal
Advances in experimental medicine and biology
ISSN: 0065-2598
Titre abrégé: Adv Exp Med Biol
Pays: United States
ID NLM: 0121103
Informations de publication
Date de publication:
2021
2021
Historique:
entrez:
13
1
2022
pubmed:
14
1
2022
medline:
15
1
2022
Statut:
ppublish
Résumé
Oculodentodigital syndrome (ODDS) is a rare genetic disorder caused by mutations in the gap junction GJA1 gene encoding connexin-43 (chromosome 6q22). A typical ODDS case is presented. A 40-year-old male patient was examined neurologically and genetically. He had a history of recent parieto-occipital leukodystrophy, some episodes of temporary hearing loss, and characteristic facial features of ODDS. Sequencing of the GJA1 gene was performed in patient's total genomic DNA sample isolated from peripheral blood cells. A novel heterozygous missense mutation (443G>A) was identified in the GJA1 gene, resulting in coding for a different amino acid (Arg148Gln). The molecular genetic analysis confirmed the diagnosis of ODDS. The novel mutation, located within a calmodulin binding region of connexin-43, probably affects proper channel function.
Identifiants
pubmed: 35023121
doi: 10.1007/978-3-030-78787-5_39
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
325-329Informations de copyright
© 2021. The Author(s), under exclusive license to Springer Nature Switzerland AG.
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