Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2811920 | The American Journal of Human Genetics | 2009 | 6 Pages |
Abstract
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.
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Authors
Satoshi Suzuki, Mary L. Marazita, Margaret E. Cooper, Nobutomo Miwa, Anne Hing, Astanand Jugessur, Nagato Natsume, Kazuo Shimozato, Naofumi Ohbayashi, Yasushi Suzuki, Teruyuki Niimi, Katsuhiro Minami, Masahiko Yamamoto, Tserendorj J. Altannamar,