Article
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Human mutation - 1 Aug 2016
Goos Jacqueline A C, Fenwick Aimee L, Swagemakers Sigrid M A, McGowan Simon J, Knight Samantha J L, Twigg Stephen R F, Hoogeboom A Jeannette M, van Dooren Marieke F, Magielsen Frank J, Wall Steven A, Mathijssen Irene M J, Wilkie Andrew O M, van der Spek Peter J, van den Ouweland Ans M W
Abstract excerpt
TCF12-related craniosynostosis can be caused by small heterozygous loss-of-function mutations in TCF12. Large intragenic rearrangements, however, have not been described yet. Here, we present the identification of four large rearrangements in TCF12 causing TCF12-related craniosynostosis. Whole-genome sequencing was applied on the DNA of 18 index cases with coronal synostosis and their family members (43 samples...
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