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

作者信息

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

机构信息

Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi-Gakuin University, Chikusa-Ku, Nagoya, Japan.

出版信息

Am J Hum Genet. 2009 Mar;84(3):406-11. doi: 10.1016/j.ajhg.2009.02.002. Epub 2009 Feb 26.

DOI:10.1016/j.ajhg.2009.02.002

PMID:19249007

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2667991/

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.

摘要