Recurrent 17q12 microduplications contribute to renal disease but not diabetes.

Stuart CannonRhian ClissoldKittiya SukcharoenMarcus TukeGareth HawkesRobin N BeaumontAndrew R WoodMark GilchristAndrew T HattersleyRichard A OramKashyap PatelCaroline WrightMichael N Weedon

Published in: Journal of medical genetics (2022)

haploinsufficiency. We show that both 17q12 microdeletions and microduplications are associated with renal disease, and multiple genes within the region likely contribute to renal and neurocognitive phenotypes.

Keyphrases

type diabetes
cardiovascular disease
genome wide
adipose tissue
transcription factor
weight loss