Lessons from whole-exome sequencing in MODYX families

Petra Dusatkova; Mingyan Fang; Stepanka Pruhova; Anette P Gjesing; Ondrej Cinek; Torben Hansen; Oluf B Pedersen; Xun Xu; Jan Lebl

doi:10.1016/j.diabres.2014.03.008

Lessons from whole-exome sequencing in MODYX families

Diabetes Res Clin Pract. 2014 Jun;104(3):e72-4. doi: 10.1016/j.diabres.2014.03.008. Epub 2014 Mar 19.

Authors

Petra Dusatkova¹, Mingyan Fang², Stepanka Pruhova³, Anette P Gjesing⁴, Ondrej Cinek³, Torben Hansen⁵, Oluf B Pedersen⁶, Xun Xu², Jan Lebl³

Affiliations

¹ Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic. Electronic address: petra.dusatkova@lfmotol.cuni.cz.
² BGI-Shenzen, Shenzhen 518083, China.
³ Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
⁴ Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
⁵ Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark; Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.
⁶ Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark; Institute of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; Faculty of Health Sciences, Aarhus University, Aarhus, Denmark.

PMID: 24698406
DOI: 10.1016/j.diabres.2014.03.008

Abstract

We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re-evaluation of both clinical criteria and primer sequences.

Keywords: HNF1A; HNF1B; MODY; Whole-exome sequencing.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Diabetes Mellitus, Type 2 / diagnosis*
Diabetes Mellitus, Type 2 / genetics*
Exome / genetics*
Female
Genome, Human*
Hepatocyte Nuclear Factor 1-beta / genetics*
High-Throughput Nucleotide Sequencing*
Humans
Male
Middle Aged
Pedigree
Polymorphism, Genetic / genetics*
Young Adult

Substances

HNF1B protein, human
Hepatocyte Nuclear Factor 1-beta