2. Academic Validation
  3. Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip

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

Affiliation

  • 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.

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