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

Authors: Suzuki, Satoshi; Marazita, Mary L; Cooper, Margaret E; Miwa, Nobutomo; Hing, Anne; Jugessur, Astanand; Natsume, Nagato; Shimozato, Kazuo; Ohbayashi, Naofumi; Suzuki, Yasushi; Niimi, Teruyuki; Minami, Katsuhiro; Yamamoto, Masahiko; Altannamar, Tserendorj J; Erkhembaatar, Tudevdorj; Furukawa, Hiroo; Daack-Hirsch, Sandra; L'heureux, Jamie; Brandon, Carla A; Weinberg, Seth M; Neiswanger, Katherine; Deleyiannis, Frederic W B; de Salamanca, Javier E; Vieira, Alexandre R; Lidral, Andrew C; Martin, James F; Murray, Jeffrey C

Published In Am J Hum Genet, (2009 Mar)

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.

PubMed ID: 19249007

MeSH Terms: No MeSH terms associated with this publication