title: Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
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.
authors.affiliation: Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi-Gakuin University, Chikusa-Ku, Nagoya, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Suzuki
authors.forename: Mary L
authors.initials: ML
authors.lastname: Marazita
authors.forename: Margaret E
authors.initials: ME
authors.lastname: Cooper
authors.forename: Nobutomo
authors.initials: N
authors.lastname: Miwa
authors.forename: Anne
authors.initials: A
authors.lastname: Hing
authors.forename: Astanand
authors.initials: A
authors.lastname: Jugessur
authors.forename: Nagato
authors.initials: N
authors.lastname: Natsume
authors.forename: Kazuo
authors.initials: K
authors.lastname: Shimozato
authors.forename: Naofumi
authors.initials: N
authors.lastname: Ohbayashi
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Teruyuki
authors.initials: T
authors.lastname: Niimi
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Minami
authors.forename: Masahiko
authors.initials: M
authors.lastname: Yamamoto
authors.forename: Tserendorj J
authors.initials: TJ
authors.lastname: Altannamar
authors.forename: Tudevdorj
authors.initials: T
authors.lastname: Erkhembaatar
authors.forename: Hiroo
authors.initials: H
authors.lastname: Furukawa
authors.forename: Sandra
authors.initials: S
authors.lastname: Daack-Hirsch
authors.forename: Jamie
authors.initials: J
authors.lastname: L'heureux
authors.forename: Carla A
authors.initials: CA
authors.lastname: Brandon
authors.forename: Seth M
authors.initials: SM
authors.lastname: Weinberg
authors.forename: Katherine
authors.initials: K
authors.lastname: Neiswanger
authors.forename: Frederic W B
authors.initials: FW
authors.lastname: Deleyiannis
authors.forename: Javier E
authors.initials: JE
authors.lastname: de Salamanca
authors.forename: Alexandre R
authors.initials: AR
authors.lastname: Vieira
authors.forename: Andrew C
authors.initials: AC
authors.lastname: Lidral
authors.forename: James F
authors.initials: JF
authors.lastname: Martin
authors.forename: Jeffrey C
authors.initials: JC
authors.lastname: Murray
mesh_terms: D000595:Amino Acid Sequence; D055415:Bone Morphogenetic Protein 4 / Q000235:genetics* / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D018389:Codon, Nonsense; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense
chemical_list: D055415:Bone Morphogenetic Protein 4; D018389:Codon, Nonsense