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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-12

AUTHORS

Mitsuko Nakashima, Masakazu Miyajima, Hidenori Sugano, Yasushi Iimura, Mitsuhiro Kato, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Hajime Arai, Naomichi Matsumoto

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. More... »

PAGES

691

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2014.95

DOI

http://dx.doi.org/10.1038/jhg.2014.95

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1037975639

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25374402


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39 schema:description 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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