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

  • Am J Hum Genet. 2009 Mar;84(3):406-11. doi: 10.1016/j.ajhg.2009.02.002.
Satoshi Suzuki  1 ,  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 ,  Tudevdorj Erkhembaatar ,  Hiroo Furukawa ,  Sandra Daack-Hirsch ,  Jamie L'heureux ,  Carla A Brandon ,  Seth M Weinberg ,  Katherine Neiswanger ,  Frederic W B Deleyiannis ,  Javier E de Salamanca ,  Alexandre R Vieira ,  Andrew C Lidral ,  James F Martin ,  Jeffrey C Murray
Affiliations
  • 1. Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi-Gakuin University, Chikusa-Ku, Nagoya, Japan.
PMID: 19249007 DOI: 10.1016/j.ajhg.2009.02.002
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.