Lessons from whole-exome sequencing in MODYX families.
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.
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.
Petra
P
Dusatkova
BGI-Shenzen, Shenzhen 518083, China.
Mingyan
M
Fang
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Stepanka
S
Pruhova
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
Anette P
AP
Gjesing
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Ondrej
O
Cinek
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.
Torben
T
Hansen
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.
Oluf B
OB
Pedersen
BGI-Shenzen, Shenzhen 518083, China.
Xun
X
Xu
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Jan
J
Lebl
D000293:Adolescent; D000328:Adult; D000368:Aged; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis* / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D005260:Female; D015894:Genome, Human; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D055815:Young Adult
C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta
HNF1A; HNF1B; MODY; Whole-exome sequencing