Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

ABSTRACT:

Background

The Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder characterized by a port-wine stain affecting the skin in the distribution of the ophthalmic branch of the trigeminal nerve, abnormal capillary venous vessels in the leptomeninges of the brain and choroid, glaucoma, seizures, stroke, and intellectual disability. It has been hypothesized that somatic mosaic mutations disrupting vascular development cause both the Sturge-Weber syndrome and port-wine stains, and the severity and extent of presentation are determined by the developmental time point at which the mutations occurred. To date, no such mutation has been identified.

Methods

We performed whole-genome sequencing of DNA from paired samples of visibly affected and normal tissue from 3 per

SUBMITTER: Shirley MD 

PROVIDER: S-EPMC3749068 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature