Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?

被引：21

作者：

Barker, K. T.

Foulkes, W. D.

Schwartz, C. E.

Labadie, C.

Monsell, F.

Houlston, R. S.

Harper, J.

机构：

[1] Inst Canc Res, Canc Genet Sect, Sutton SM2 5NG, Surrey, England

[2] McGill Univ, Dept Oncol, Program Canc Genet, Montreal, PQ, Canada

[3] McGill Univ, Dept Human Genet, Program Canc Genet, Montreal, PQ, Canada

[4] Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA

[5] Great Ormond St Hosp Children NHS Trust, Dept Dermatol, London WC1N 3JH, England

[6] Bristol Royal Hosp Children, Bristol, Avon, England

来源：

JOURNAL OF MEDICAL GENETICS | 2006年 / 43卷 / 07期

关键词：

D O I：

10.1136/jmg.2006.040790

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: It has been reported that the activating mutation, E133K, in the angiogenic factor VG5Q ( formally named AGGF1) causes Klippel-Trenaunay Syndrome ( KTS), a rare vascular disease associated with asymmetric overgrowth. This proposal followed from the observation that five out of 130 KTS patients were constitutionally heterozygous for VG5Q, E133K. Objective: To explore the possibility that VG5Q, and specifically E133K, is implicated in other mosaic overgrowth syndromes. Results: 24 patients were analysed for this sequence change. One patient was constitutionally heterozygous for E133K. Analysis of both parents revealed that the patient's mother, who was healthy, also carried E133K. An analysis of 275 healthy controls showed that 3.3% ( 9/275) of the population were carriers of E133K. Conclusions: The findings bring into question the assertion that VG5Q, E133K is a mutation and that it causes KTS.

引用

页码：613 / 614

页数：2

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