Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

被引：64

作者：

Longy, M

Coulon, V

Duboué, B

David, A

Larrègue, M

Eng, C

Amati, P

Kraimps, JL

Bottani, A

Lacombe, D

Bonneau, D

机构：

[1] CHU Poitiers, Serv Genet, F-86021 Poitiers, France

[2] CHU Poitiers, Serv Dermatol, F-86021 Poitiers, France

[3] CHU Poitiers, Serv Chirurg Endocrinienne, F-86021 Poitiers, France

[4] Inst Bergonie, Mol Oncol Lab, Bordeaux, France

[5] CHU Nantes, Serv Pediat & Genet, F-44035 Nantes 01, France

[6] Harvard Univ, Sch Med, Dana Farber Canc Inst,Translat Res Lab, Dept Adult Oncol,Human Canc Genet Unit, Boston, MA 02115 USA

[7] CHU Bordeaux, Serv Genet Med, Bordeaux, France

[8] CMU, Div Med Genet, Geneva, Switzerland

来源：

JOURNAL OF MEDICAL GENETICS | 1998年 / 35卷 / 11期

关键词：

Bannayan-Riley-Ruvalcaba syndrome; Cowden disease; PTEN;

D O I：

10.1136/jmg.35.11.886

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q.

引用

页码：886 / 889

页数：4

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