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

被引：154

作者：

Suzuki, Satoshi ^{[1
,2
,4
]}

Marazita, Mary L. ^{[5
,6
,7
,8
]}

Cooper, Margaret E. ^{[5
,6
,7
]}

Miwa, Nobutomo ^{[9
,10
]}

Hing, Anne ^{[11
]}

Jugessur, Astanand ^{[12
]}

Natsume, Nagato ^{[2
]}

Shimozato, Kazuo ^{[3
]}

Ohbayashi, Naofumi ^{[3
]}

Suzuki, Yasushi ^{[2
]}

Niimi, Teruyuki ^{[2
]}

Minami, Katsuhiro ^{[2
]}

Yamamoto, Masahiko ^{[4
]}

Altannamar, Tserendorj J. ^{[13
]}

Erkhembaatar, Tudevdorj ^{[13
]}

Furukawa, Hiroo ^{[2
]}

Daack-Hirsch, Sandra ^{[14
]}

L'Heureux, Jamie ^{[1
]}

Brandon, Carla A. ^{[5
,6
,7
]}

Weinberg, Seth M. ^{[5
,6
,7
,15
]}

Neiswanger, Katherine ^{[5
,6
,7
]}

Deleyiannis, Frederic W. B. ^{[16
]}

de Salamanca, Javier E. ^{[17
]}

Vieira, Alexandre R. ^{[5
,6
,7
,18
]}

Lidral, Andrew C. ^{[1
]}

Martin, James F. ^{[19
]}

Murray, Jeffrey C. ^{[1
,14
,20
,21
,22
]}

机构：

[1] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA

[2] Aichi Gakuin Univ, Sch Dent, Div Res & Treatment Oral & Maxillofacial Congenit, Chikusa Ku, Nagoya, Aichi 4648651, Japan

[3] Aichi Gakuin Univ, Sch Dent, Dept Maxillofacial Surg, Chikusa Ku, Nagoya, Aichi 4648651, Japan

[4] Aichi Gakuin Univ, Fac Psychol & Phys Sci, Iwatsuki, Nisshin 4700195, Japan

[5] Univ Pittsburgh, Ctr Craniofacial & Dent Genet, Pittsburgh, PA 15219 USA

[6] Univ Pittsburgh, Dept Oral Biol, Pittsburgh, PA 15219 USA

[7] Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA 15219 USA

[8] Univ Pittsburgh, Dept Psychiat, Pittsburgh, PA 15219 USA

[9] Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 8528523, Japan

[10] Japan Sci & Technol Agcy, Tokyo, Japan

[11] Univ Washington, Ctr Human Dev & Disabil, Seattle, WA USA

[12] Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia

[13] Maternal & Childrens Hlth Res Ctr Hosp, Ulaanbaatar 210624, Mongolia

[14] Univ Iowa, Coll Nursing, Iowa City, IA 52242 USA

[15] Univ Iowa, Carver Coll Med, Dept Psychiat, Iowa City, IA 52242 USA

[16] Univ Pittsburgh, Sch Med, Dept Surg, Div Plast Surg, Pittsburgh, PA 15219 USA

[17] Univ Autonoma Madrid, Nano Jesus Univ Hosp, Dept Plast Surg, E-28049 Madrid, Spain

[18] Univ Pittsburgh, Dept Plast Surg, Pittsburgh, PA 15219 USA

[19] Texas A&M Hlth Sci Ctr, Inst Biosci & Technol, Houston, TX 77030 USA

[20] Univ Iowa, Dept Pediat Dent, Iowa City, IA 52242 USA

[21] Univ Iowa, Dept Epidemiol, Iowa City, IA 52242 USA

[22] Univ Iowa, Dept Biol, Iowa City, IA 52242 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2009年 / 84卷 / 03期

关键词：

GENE VARIANTS; PALATE; PHENOTYPE; SPECTRUM; DEFECTS; MSX1;

D O I：

10.1016/j.ajhg.2009.02.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 oils 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.

引用

页码：406 / 411

页数：6

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