Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.
Hum Genome Var
; 11(1): 2, 2024 Jan 15.
Article
en En
| MEDLINE
| ID: mdl-38221519
ABSTRACT
GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss, and tooth enamel hypoplasia. Although the patient exhibited severe neurodevelopmental delay, other clinical features of ODDD, including limb anomalies, were mild. This may be due to differences in the mosaic ratios in different organs.
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Banco de datos:
MEDLINE
Idioma:
En
Revista:
Hum Genome Var
Año:
2024
Tipo del documento:
Article
País de afiliación:
Japón