Copy number variation in MODY diabetes - Familial case presentation

  • Naida Lojo-Kadric University of Sarajevo - Institute for genetic engineering and biotechnology
  • Zelija Velija Asimi University of Sarajevo - Faculty of medicine
  • Jasmin Ramic University of Sarajevo - Institute for Genetic Engineering and Biotechnology
  • Ksenija Radic University of Sarajevo - Institute for Genetic Engineering and Biotechnology
  • Lejla Pojskic University of Sarajevo - Institute for Genetic Engineering and Biotechnology

Abstract

MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY, which are monogenic diseases, where mutations in a single gene are responsible for a particular type of MODY. Currently, there are eleven types of MODY, from which the most common types are MODY 2 and MODY 3 (with mutations on GCK and HNF1A genes, respectively). We identified very rare MODY 7 type of diabetes in three family members by MLPA analysis.

Published
2018-12-25
How to Cite
LOJO-KADRIC, Naida et al. Copy number variation in MODY diabetes - Familial case presentation. Genetics & Applications, [S.l.], v. 2, n. 2, p. 73-77, dec. 2018. ISSN 2566-431X. Available at: <http://www.genapp.ba/index.php/genapp/article/view/65>. Date accessed: 18 june 2019. doi: https://doi.org/10.31383/ga.vol2iss2pp73-77.
Section
Short communications