Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
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.
Suzuki
Satoshi
S
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi-Gakuin University, Chikusa-Ku, Nagoya, Japan.
Marazita
Mary L
ML
Cooper
Margaret E
ME
Miwa
Nobutomo
N
Hing
Anne
A
Jugessur
Astanand
A
Natsume
Nagato
N
Shimozato
Kazuo
K
Ohbayashi
Naofumi
N
Suzuki
Yasushi
Y
Niimi
Teruyuki
T
Minami
Katsuhiro
K
Yamamoto
Masahiko
M
Altannamar
Tserendorj J
TJ
Erkhembaatar
Tudevdorj
T
Furukawa
Hiroo
H
Daack-Hirsch
Sandra
S
L'heureux
Jamie
J
Brandon
Carla A
CA
Weinberg
Seth M
SM
Neiswanger
Katherine
K
Deleyiannis
Frederic W B
FW
de Salamanca
Javier E
JE
Vieira
Alexandre R
AR
Lidral
Andrew C
AC
Martin
James F
JF
Murray
Jeffrey C
JC
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
D055415:Bone Morphogenetic Protein 4; D018389:Codon, Nonsense