Article
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
eLife - 8 Sept 2016
Timberlake Andrew T, Choi Jungmin, Zaidi Samir, Lu Qiongshi, Nelson-Williams Carol, Brooks Eric D, Bilguvar Kaya, Tikhonova Irina, Mane Shrikant, Yang Jenny F, Sawh-Martinez Rajendra, Persing Sarah, Zellner Elizabeth G, Loring Erin, Chuang Carolyn, Galm Amy, Hashim Peter W, Steinbacher Derek M, DiLuna Michael L, Duncan Charles C, Pelphrey Kevin A, Zhao Hongyu, Persing John A, Lifton Richard P
Abstract excerpt
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosis, we performed exome sequencing of 132 parent-offspring trios and 59 additional probands. Thirteen probands (7%) had damaging de novo or rare...
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