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Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

Suzuki S., Marazita M.L., Cooper M.E., Miwa N., Hing A., Jugessur A., Natsume N., Shimozato K., Ohbayashi N., Suzuki Y., Niimi T., Minami K., Yamamoto M., Altannamar T.J., Erkhembaatar T., Furukawa H., Daack-Hirsch S., L'heureux J., Brandon C.A., Weinberg S.M., Neiswanger K., Deleyiannis F.W., de Salamanca J.E., Vieira A.R., Lidral A.C., Martin J.F., Murray J.C.

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.

Am. J. Hum. Genet. 84:406-411(2009) [PubMed] [Europe PMC]