Craniofacial and Neurological Phenotype in a Case of Oculodentodigital Syndrome.
Adv Exp Med Biol
; 1339: 325-329, 2021.
Article
en En
| MEDLINE
| ID: mdl-35023121
ABSTRACT
INTRODUCTION:
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. MATERIAL ANDMETHODS:
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.RESULTS:
A novel heterozygous missense mutation (443G>A) was identified in the GJA1 gene, resulting in coding for a different amino acid (Arg148Gln).CONCLUSION:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Dentarias
/
Deformidades Congénitas del Pie
/
Sindactilia
/
Anomalías Craneofaciales
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Adv Exp Med Biol
Año:
2021
Tipo del documento:
Article
País de afiliación:
Grecia