Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip
Journal, Book or Conference Title
American Journal of Human Genetics
NLM Title Abbreviation
Am J Hum Genet
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.
Amino Acid Sequence, Bone Morphogenetic Protein 4/genetics/physiology, Child, Child, Preschool, Cleft Lip/genetics, Cleft Palate/genetics, Codon, Nonsense, Humans, Molecular Sequence Data, Mutation, Missense
Published Article/Book Citation
The definitive version was published in American Journal of Human Genetics, 84:3 (2009) pp.406-411. DOI:10.1016/j.ajhg.2009.02.002.
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