A novel mutation in the ABCC8 gene causing maturity-onset diabetes of the young: A case report.
Clin Med (Lond)
; 24(2): 100033, 2024 Mar.
Article
en En
| MEDLINE
| ID: mdl-38513803
ABSTRACT
A 34-year-old woman was diagnosed with type 1 diabetes mellitus and treated with insulin for 24 years. The patient has a family history of diabetes in three consecutive generations. Her Whole exon sequencing showed a heterozygous mutation in the ABCC8 gene, and it also found some of her relatives to carry this mutation. She was diagnosed with MODY12 and received glimepiride therapy with the achievement of good glycaemic control.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diabetes Mellitus Tipo 2
/
Receptores de Sulfonilureas
/
Mutación
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Clin Med (Lond)
Año:
2024
Tipo del documento:
Article
País de afiliación:
China