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The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.
- Source :
-
Journal of human genetics [J Hum Genet] 2014 Dec; Vol. 59 (12), pp. 691-3. Date of Electronic Publication: 2014 Nov 06. - Publication Year :
- 2014
-
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.
- Subjects :
- Age of Onset
Child
Child, Preschool
Female
GTP-Binding Protein alpha Subunits, Gq-G11
Genome, Human
High-Throughput Nucleotide Sequencing
Humans
Male
Mutation
Port-Wine Stain physiopathology
Sturge-Weber Syndrome physiopathology
GTP-Binding Protein alpha Subunits genetics
Port-Wine Stain genetics
Sturge-Weber Syndrome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1435-232X
- Volume :
- 59
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 25374402
- Full Text :
- https://doi.org/10.1038/jhg.2014.95