Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

被引：86

作者：

Delnatte, Capucine

Sanlaville, Damien

Mougenot, Jean-Francois

Vermeesch, Joris-Robert

Houdayer, Claude

de Blois, Marie-Christine

Genevieve, David

Goulet, Olivier

Fryns, Jean-Pierre

Jaubert, Francis

Vekemans, Michel

Lyonnet, Stanislas

Romana, Serge

Eng, Charis

Stoppa-Lyonnet, Dominique

机构：

[1] Inst Curie, Dept Genet, Paris, France

[2] Hop Necker Enfants Malad, AP HP, Dept Genet, Paris, France

[3] Hop Necker Enfants Malad, AP HP, Dept Pediat, Paris, France

[4] Hop Necker Enfants Malad, AP HP, Dept Pathol, Paris, France

[5] INSERM, E0210, Equipe Mixte, Paris, France

[6] Katholieke Univ Leuven, Ctr Human Genet, Louvain, Belgium

[7] Case Western Reserve Univ, Sch Med, Cleveland Clin, Genom Med Inst, Cleveland, OH 44106 USA

[8] Case Western Reserve Univ, Sch Med, Dept Genet, Cleveland, OH 44106 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2006年 / 78卷 / 06期

关键词：

D O I：

10.1086/504301

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these children are heterozygous for a germline deletion encompassing two contiguous genes, PTEN and BMPR1A. We hypothesize that juvenile polyposis of infancy is caused by the deletion of these two genes and that the severity of the disease reflects cooperation between these two tumor-suppressor genes.

引用

页码：1066 / 1074

页数：9

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