Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
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DOI：
10.7554/elife.20125
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发表时间：
2016-09-08
期刊：
影响因子：
7.7
通讯作者：
Lifton, Richard P.
中科院分区：
文献类型：
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作者：
Timberlake, Andrew T.;Choi, Jungmin;Lifton, Richard P.
颅缝过早融合（颅缝早闭），影响1/2000的新生儿，在婴儿期进行手术治疗，以防止不良的神经系统结果。为了鉴定导致常见的非综合征性中线（矢状位和额位）颅缝早闭的突变，我们对132个父母-后代三人组和59个额外的先证者进行了外显子组测序。13名先证者（7%）在SMAD 6中有破坏性的新生或罕见的传递性突变，SMAD 6是BMP诱导的成骨细胞分化的抑制剂（p
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 transmitted mutations in SMAD6, an inhibitor of BMP - induced osteoblast differentiation (p