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A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations
- Source :
- Diabetes Therapy
- Publication Year :
- 2017
- Publisher :
- Springer Science and Business Media LLC, 2017.
-
Abstract
- Diabetes mellitus with autosomal dominant inheritance, i.e., maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. The MODY phenotype is associated with gene mutations leading to pancreatic β-cell dysfunction. Here, we present the clinical case of a 50-year-old proband with familial diabetes mellitus in five generations (proband, her mother, grandmother, great-grandfather, and son). This disease is most likely associated with the novel Ser6Arg mutation in the HNF1A gene, which was identified in four family members. The mutation was not detected in MODY patients (126 subjects), in patients with type 2 diabetes mellitus (188 subjects), and in a general population sample (564 subjects). Electronic supplementary material The online version of this article (10.1007/s13300-017-0350-8) contains supplementary material, which is available to authorized users.
- Subjects :
- 0301 basic medicine
Proband
Pediatrics
medicine.medical_specialty
Endocrinology, Diabetes and Metabolism
Family history
Case Report
030209 endocrinology & metabolism
Gene mutation
HNF1A
Maturity onset diabetes of the young
03 medical and health sciences
0302 clinical medicine
Diabetes mellitus
Internal Medicine
medicine
Insulin
HNF1A Gene Mutation
MODY3
business.industry
Type 2 Diabetes Mellitus
medicine.disease
030104 developmental biology
Hyperglycemia
business
Subjects
Details
- ISSN :
- 18696961 and 18696953
- Volume :
- 9
- Database :
- OpenAIRE
- Journal :
- Diabetes Therapy
- Accession number :
- edsair.doi.dedup.....5f8c39d03d0a3e94dd3310b07f6d2516