Article
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Human mutation - 1 Jul 2021
Calpena Eduardo, McGowan Simon J, Blanco Kelly Fiona, Boudry-Labis Elise, Dieux-Coeslier Anne, Harrison Rachel, Johnson Diana, Lachlan Katherine, Morton Jenny E V, Stewart Helen, Vasudevan Pradeep, Twigg Stephen R F, Wilkie Andrew O M
Abstract excerpt
Heterozygous intragenic loss-of-function mutations of ERF, encoding an ETS transcription factor, were previously reported to cause a novel craniosynostosis syndrome, suggesting that ERF is haploinsufficient. We describe six families harboring heterozygous deletions including, or near to, ERF, of which four were characterized by whole-genome sequencing and two by chromosomal microarray. Based on the severity of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.