Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
case_control · Level III
Where this comes from
- Record sourced from PubMed, PMID 19249007.
- Also identified by DOI 10.1016/j.ajhg.2009.02.002 and PMC identifier 2667991.
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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.
Medical subject headings
- Bone Morphogenetic Protein 4
- Cleft Lip
- Cleft Palate