Deep sequencing of GNAQ in skin biopsies
Sturge-Weber syndrome (SWS) is a rare genetic neurocutaneous syndrome characterized by vascular anomalies, leptomeningeal angiomatosis, and glaucoma. In the majority of cases, SWS is caused by tissue-specific somatic mosaicism of a recurrent missense variant in the GNAQ gene. Thirteen SWS patients, who underwent skin biopsy and/or brain surgery, were enrolled in this study. In contrast to peripheral blood samples, tissue samples from all patients were found to harbor the hotspot GNAQ c.548G>A p.(Arg183Gln) variant at fractions ranging from 0.50 % to 8.3 %. Our results highlight the importance of tissue specific analysis with a highly augmented coverage for deep sequencing.
Sturge-Weber syndrome (SWS) is a rare genetic neurocutaneous syndrome characterized by vascular anomalies, leptomeningeal angiomatosis, and glaucoma. In the majority of cases, SWS is caused by tissue-specific somatic mosaicism of a recurrent missense variant in the GNAQ gene. Thirteen SWS patients, who underwent skin biopsy and/or brain surgery, were enrolled in this study. In contrast to peripheral blood samples, tissue samples from all patients were found to harbor the hotspot GNAQ c.548G>A p.(Arg183Gln) variant at fractions ranging from 0.50 % to 8.3 %. Our results highlight the importance of tissue specific analysis with a highly augmented coverage for deep sequencing.
Center for Anatomy & Cell Biology (Medical University of Vienna)