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Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genetics in medicine : official journal of the American College of Medical Genetics Giannikou, K. n., Lasseter, K. D., Grevelink, J. M., Tyburczy, M. E., Dies, K. A., Zhu, Z. n., Hamieh, L. n., Wollison, B. M., Thorner, A. R., Ruoss, S. J., Thiele, E. A., Sahin, M. n., Kwiatkowski, D. J. 2019

Abstract

To examine the prevalence and spectrum of mosaic variant allele frequency (MVAF) in tuberous sclerosis complex (TSC) patients with low-level mosaicism and correlate genetic findings with clinical features and transmission risk.Massively parallel sequencing was performed on 39 mosaic TSC patients with 170 different tissue samples.TSC mosaic patients (MVAF: 0-10%, median 1.7% in blood DNA) had a milder and distinct clinical phenotype in comparison with other TSC series, with similar facial angiofibromas (92%) and kidney angiomyolipomas (83%), and fewer seizures, cortical tubers, and multiple other manifestations (p?

View details for DOI 10.1038/s41436-019-0562-6

View details for PubMedID 31160751