Article
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Nature genetics - 1 Mar 2013
Sharma Vikram P, Fenwick Aimée L, Brockop Mia S, McGowan Simon J, Goos Jacqueline A C, Hoogeboom A Jeannette M, Brady Angela F, Jeelani Nu Owase, Lynch Sally Ann, Mulliken John B, Murray Dylan J, Phipps Julie M, Sweeney Elizabeth, Tomkins Susan E, Wilson Louise C, Bennett Sophia, Cornall Richard J, Broxholme John, Kanapin Alexander, Johnson David, Wall Steven A, van der Spek Peter J, Mathijssen Irene M J, Maxson Robert E, Twigg Stephen R F, Wilkie Andrew O M
Abstract excerpt
Craniosynostosis, the premature fusion of the cranial sutures, is a heterogeneous disorder with a prevalence of ∼1 in 2,200 (refs. 1,2). A specific genetic etiology can be identified in ∼21% of cases, including mutations of TWIST1, which encodes a class II basic helix-loop-helix (bHLH) transcription factor, and causes Saethre-Chotzen syndrome, typically associated with coronal synostosis. Using exome sequencing,...
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