Clinical characterization and genetic analysis of 5 Chinese families with glucokinase gene mutations / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 645-650, 2022.
Artículo
en Chino
| WPRIM (Pacífico Occidental)
| ID: wpr-957601
Biblioteca responsable:
WPRO
ABSTRACT
Objective:
To summarize the clinical manifestations and molecular genetic characteristics of 5 families with maturity-onset diabetes mellitus of the young 2 (MODY2) caused by glucokinase (GCK) gene mutations.Methods:
Clinical data and biochemical results of probands were collected. Peripheral blood samples of probands and first-degree family members were collected and whole exome gene was detected using second-generation sequencing. After comparing against the database, the suspected pathogenic sites were selected for Sanger sequencing verification.Results:
All the 5 probands presented with mild fasting hyperglycemia, HbA 1C<7.5%, and no symptoms of thirst, polydipsia or polyuria. There were 6 mutants in 5 families, including M1 c.555delT (P.leu186CysFS Ter19) and M3 c. 263T>A (p.Met88Lys) which haven′t been reported before. During the follow-up, all probands received life-style intervention, except 2 pregnant women who should consider insulin treatment if necessary according to fetal genotypes.Conclusion:
Among patients who meet the diagnostic criteria for MODY, MODY2 screening should be performed for children or pregnant women with mild hyperglycemia and family history. GCK gene detection is the gold standard for diagnosis, and accurate diagnosis will be conducive to the selection of appropriate treatment.
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Endocrinology and Metabolism
Año:
2022
Tipo del documento:
Artículo