| Literature DB >> 19249007 |
Satoshi Suzuki1, 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.
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.Entities:
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Year: 2009 PMID： 19249007 PMCID： PMC2667991 DOI： 10.1016/j.ajhg.2009.02.002
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025