Mutations in BMP4

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• 作者：Satoshi Suzuki ; Mary L. Marazita ; Margaret E. Cooper ; Nobutomo Miwa ; Anne Hing ; Astan ; Jugessur ; Nagato Natsume ; Kazuo Shimozato ; Naofumi Ohbayashi ; Yasushi Suzuki ; Teruyuki Niimi ; Katsuhiro Minami ; Masahiko Yamamoto ; Tserendorj J. Altannamar ; Tudevdorj Erkhembaatar ; Hiroo Furukawa ; S ; ra Daack-Hirsc
• 刊名：The American Journal of Human Genetics
• 出版年：2009
• 出版时间：13 March 2009
• 年：2009
• 卷：84
• 期：3
• 页码：406-411
• 全文大小：1234 K

文摘

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 oris 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.