Sturge–Weber Syndrome – GNAQ Somatic Mutation

Posted by & filed under Part 28: NEUROGENETICS.

The Sturge–Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ. Whole-genome sequencing of DNA from paired samples of visibly affected and normal tissue from 3 persons with the Sturge–Weber syndrome was performed.  A non-synonymous single-nucleotide variant (c.548G?A, p.Arg183Gln) was identified in GNAQ in samples of affected tissue from 88% of the participants (23 of 26) with the Sturge–Weber syndrome and from 92% of the participants (12 of 13) with apparently nonsyndromic port-wine stains. This variant was not identified in any of the samples of affected tissue from 4 participants with an unrelated cerebrovascular malformation or in any of the samples from the 6 controls.

http://www.nejm.org/doi/full/10.1056/NEJMoa1213507?query=TOC

added by Yannis Trakadis, MD

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