Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?
- 1Cancer Genetics Section, Institute of Cancer Research, Sutton, UK
- 2Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
- 3JC Self Research Institute, Greenwood Genetics Center, Greenwood, South Carolina, USA
- 4Department of Dermatology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, UK
- 5Bristol Royal Hospital for Children, St Michael’s Hill, Bristol, UK
- 6Cancer Genetics Section, Institute of Cancer Research, Sutton, Surrey
- 7Department of Dermatology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, UK
- Correspondence to: Dr Richard Houlston Cancer Genetics Section, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK;
- Received 9 January 2006
- Accepted 23 January 2006
- Revised 23 January 2006
- Published Online First 27 January 2006
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.
Published Online First 27 January 2006
Conflicts of interests: none declared