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Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip

Suzuki, S and Marazita, ML and Cooper, ME and Miwa, N and Hing, A and Jugessur, A and Natsume, N and Shimozato, K and Ohbayashi, N and Suzuki, Y and Niimi, T and Minami, K and Yamamoto, M and Altannamar, TJ and Erkhembaatar, T and Furukawa, H and Daack-Hirsch, S and L'Heureux, J and Brandon, CA and Weinberg, SM and Neiswanger, K and Deleyiannis, FWB and de Salamanca, JE and Vieira, AR and Lidral, AC and Martin, JF and Murray, JC (2009) Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip. American Journal of Human Genetics, 84 (3). 406 - 411. ISSN 0002-9297

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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. © 2009 The American Society of Human Genetics.


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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Suzuki, S
Marazita, MLmarazita@pitt.eduMARAZITA
Cooper, ME
Miwa, N
Hing, A
Jugessur, A
Natsume, N
Shimozato, K
Ohbayashi, N
Suzuki, Y
Niimi, T
Minami, K
Yamamoto, M
Altannamar, TJ
Erkhembaatar, T
Furukawa, H
Daack-Hirsch, S
L'Heureux, J
Brandon, CA
Weinberg, SM
Neiswanger, K
Deleyiannis, FWB
de Salamanca, JE
Vieira, ARarv11@pitt.eduARV11
Lidral, AC
Martin, JF
Murray, JC
Date: 13 March 2009
Date Type: Publication
Journal or Publication Title: American Journal of Human Genetics
Volume: 84
Number: 3
Page Range: 406 - 411
DOI or Unique Handle: 10.1016/j.ajhg.2009.02.002
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0002-9297
MeSH Headings: Amino Acid Sequence; Bone Morphogenetic Protein 4--genetics; Bone Morphogenetic Protein 4--physiology; Child; Child, Preschool; Cleft Lip--genetics; Cleft Palate--genetics; Codon, Nonsense; Humans; Molecular Sequence Data; Mutation, Missense
Other ID: NLM PMC2667991
PubMed Central ID: PMC2667991
PubMed ID: 19249007
Date Deposited: 20 Sep 2012 20:12
Last Modified: 20 Feb 2020 13:55
URI: http://d-scholarship.pitt.edu/id/eprint/14322

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