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. 2014 Dec;59(12):691-3.
doi: 10.1038/jhg.2014.95. Epub 2014 Nov 6.

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome

Mitsuko Nakashima  1 , Masakazu Miyajima  2 , Hidenori Sugano  2 , Yasushi Iimura  2 , Mitsuhiro Kato  3 , Yoshinori Tsurusaki  1 , Noriko Miyake  1 , Hirotomo Saitsu  1 , Hajime Arai  2 , Naomichi Matsumoto  1
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The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome

Mitsuko Nakashima et al. J Hum Genet. 2014 Dec.

Abstract

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by capillary malformation (port-wine stains), and choroidal and leptomeningeal vascular malformations. Previously, the recurrent somatic mutation c.548G>A (p.R183Q) in the G-α q gene (GNAQ) was identified as causative in SWS and non-syndromic port-wine stain patients using whole-genome sequencing. In this study, we investigated somatic mutations in GNAQ by next-generation sequencing. We first performed targeted amplicon sequencing of 15 blood-brain-paired samples in sporadic SWS and identified the recurrent somatic c.548G>A mutation in 80% of patients (12 of 15). The percentage of mutant alleles in brain tissues of these 12 patients ranged from 3.6 to 8.9%. We found no other somatic mutations in any of the seven GNAQ exons in the remaining three patients without c.548G>A. These findings suggest that the recurrent somatic GNAQ mutation c.548G>A is the major determinant genetic factor for SWS and imply that other mutated candidate gene(s) may exist in SWS.

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