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A somatic MAP3K3 mutation is associated with verrucous venous malformation
Javier A Couto1, Matthew P Vivero1, Harry P W Kozakewich2
1Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
American Journal of Human Genetics
|March 3, 2015
Summary
Verrucous venous malformation (VVM) is linked to somatic mutations in the MAP3K3 gene. This discovery provides a genetic basis for this vascular anomaly, paving the way for future research.
Area of Science:
- Genetics
- Dermatology
- Vascular Biology
Background:
- Verrucous venous malformation (VVM) is a congenital vascular anomaly characterized by hyperkeratotic skin overlying abnormal dermal venules.
- The underlying genetic cause of VVM has remained largely unknown.
Purpose of the Study:
- To investigate the hypothesis that VVM lesions result from somatic mutations.
- To identify specific genes and mutations associated with VVM development.
Main Methods:
- Whole-exome sequencing (WES) was performed on VVM tissue from six unrelated individuals.
- Droplet digital PCR (ddPCR) was used to confirm identified mutations in affected and unaffected tissues.
Main Results:
- Mosaicism for a missense mutation (c.1323C>G) in the MAP3K3 gene was identified in three of six VVM tissue samples.
- This MAP3K3 mutation was confirmed in additional VVM samples, with mutant allele frequencies ranging from 6% to 19%.
- The mutation was absent in unaffected tissue and in other vascular anomaly types.
Conclusions:
- Somatic mutations in MAP3K3 are implicated in the pathogenesis of verrucous venous malformation.
- MAP3K3 dysfunction likely contributes to abnormal vascular development in VVM.
- This finding provides a genetic explanation for VVM and highlights MAP3K3's role in vascular development.
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