Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.

Mustafa TosurClaudia Soler-AlfonsoKatie M ChanMichael M KhayatShalini N JhangianiQingchang MengAhmad RefaeyDonna MuznyRichard A GibbsDavid R MurdockJennifer E PoseyAshok BalasubramanyamMaria Jose RedondoAniko Sabo

Published in: Pediatric diabetes (2021)

We diagnosed two patients with MODY using ES in children initially classified as "T1D". One has a likely pathogenic novel gene variant not previously associated with MODY. We demonstrate the clinical utility of ES in patients with clinical suspicion of MODY.

Keyphrases

young adults
type diabetes
copy number
cardiovascular disease
glycemic control
metabolic syndrome
genome wide analysis