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Licensed Unlicensed Requires Authentication Published by De Gruyter December 9, 2016

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

Karolina Antosik , Piotr Gnyś , Przemysława Jarosz-Chobot , Małgorzata Myśliwiec , Agnieszka Szadkowska , Maciej Małecki , Wojciech Młynarski and Maciej Borowiec EMAIL logo

Abstract

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.


Corresponding author: Maciej Borowiec, PhD, Department of Clinical Genetics, Medical University of Lodz, Pomorska 251, 92-213 Lodz, Poland, Phone: +48 42 272 57 67

Acknowledgments:

This study was supported by funds from the National Science Centre, project no. 2011/01/N/NZ5/02758.

  1. Author contributions: All the authors have accepted responsibility for the entire content of the submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2016-6-14
Accepted: 2016-11-3
Published Online: 2016-12-9
Published in Print: 2017-1-1

©2017 Walter de Gruyter GmbH, Berlin/Boston

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