An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY)

作者：Antosik Karolina; Gnys Piotr; Jarosz Chobot Przemyslawa; Mysliwiec Malgorzata; Szadkowska Agnieszka; Malecki Maciej; Mlynarski Wojciech; Borowiec Maciej^*

来源：Journal of Pediatric Endocrinology & Metabolism, 2017, 30(1): 97-100.

DOI：10.1515/jpem-2016-0239

• BAD gene
• GCK gene
• GCK-MODY
• monogenic diabetes

Background: Monogenic diabetes is a rare disease caused by single gene mutations. Maturity onset diabetes of the young (MODY) is one of the major forms of monogenic diabetes recognised in the paediatric population. To date, 13 genes have been related to MODY development. The aim of the study was to analyse the sequence of the BCL2-associated agonist of cell death (BAD) gene in patients with clinical suspicion of GCK-MODY, but who were negative for glucokinase (GCK) gene mutations.
Methods: A group of 122 diabetic patients were recruited from the "Polish Registry for Paediatric and Adolescent Diabetes-nationwide genetic screening for monogenic diabetes" project. The molecular testing was performed by Sanger sequencing.
Results: A total of 10 sequence variants of the BAD gene were identified in 122 analysed diabetic patients.
Conclusions: Among the analysed patients suspected of MODY, one possible pathogenic variant was identified in one patient; however, further confirmation is required for a certain identification.

• 出版日期2017-1