MODY11 induced by heterozygous mutations of a novel B lymphocyte kinase
10.3760/cma.j.cn311282-20211101-00693
- VernacularTitle:一例B淋巴细胞激酶新位点突变引起MODY11的临床特点分析
- Author:
Mao LI
1
;
Juxiang LIU
;
Wenbiao HAN
;
Jinxing QUAN
Author Information
1. 甘肃省人民医院内分泌科，兰州 730030
- Keywords:
Maturity-onset diabetes of the young;
B lymphocyte kinase;
Heterozygous mutation;
Failure to thrive;
Primary amenorrhea;
Intellectual impairment;
Hyperlipem
- From:
Chinese Journal of Endocrinology and Metabolism
2022;38(12):1095-1097
- CountryChina
- Language:Chinese
-
Abstract:
To characterize the clinical and molecular features of a patient with maturity-onset diabetes of the young 11(MODY11) and literature review. The patient was a 30-year-old female with hyperglycemia for 2 years. Failure to thrivea, primary amenorrhea, intellectual impairment, and severe hyperlipidemia were present at the same time. A novel mutations of the B lymphocyte kinase gene(BLK) c. 1025C>T(p.A342V) was found in the patient. Literature review revealed that there were more than ten mutation sites in BLK-MODY11. Some of them had hyperglycemia, over weight or systemic lupus erythematosus. To date, the clinical characteristics of the patient, such as growth retardation, primary amenorrhea, and intellectual impairment have not been reported in MODY11. Our clinical report further expands the clinical presentations and variabilities of MODY11.
