Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip
Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip
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DOI：
10.1016/j.ajhg.2009.02.002
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发表时间：
2009-03-13
影响因子：
9.8
通讯作者：
Murray, Jeffrey C.
中科院分区：
文献类型：
--
作者：
Suzuki, Satoshi;Marazita, Mary L.;Murray, Jeffrey C.
唇裂伴或不伴腭裂（CL/P）是一种复杂的特征，有证据表明临床谱包括微小型和上皮下唇缺损。我们在30例微小型裂中发现了1例BMP 4基因的错义突变和无义突变，在87例轮匝肌上皮下缺损（OOM）中发现了2例，在968例明显CL/P中发现了5例，在529例对照中发现了0例。这些结果证实了显微畸形和上皮下OOM缺陷是CL/P谱的一部分，在对唇腭裂家族进行临床评价时应予以考虑。此外，我们建议BMP 4在伤口愈合中发挥作用。
Cleft lip with or without cleft palate (CL/P) is a complex trait with evidence that the clinical spectrum includes both microform and subepithelial lip defects. We identified missense and nonsense mutations in the BMP4 gene in 1 of 30 cases of microform clefts, 2 of 87 cases with subepithelial defects in the orbicularis oils muscle (OOM), 5 of 968 cases of overt CL/P, and 0 of 529 controls. These results provide confirmation that microforms and subepithelial OOM defects are part of the spectrum of CL/P and should be considered during clinical evaluation of families with clefts. Furthermore, we suggest a role for BMP4 in wound healing.