期刊
JOURNAL OF HUMAN GENETICS
卷 59, 期 12, 页码 691-693出版社
SPRINGERNATURE
DOI: 10.1038/jhg.2014.95
关键词
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资金
- Ministry of Health, Labour and Welfare of Japan
- Japan Society for the Promotion of Science
- Takeda Science Foundation
- fund for Creation of Innovation Centers for Advanced Interdisciplinary Research Areas Program in the Project for Developing Innovation Systems
- Strategic Research Program for Brain Sciences
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Grants-in-Aid for Scientific Research [24592173] Funding Source: KAKEN
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-alpha 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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