Article
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 - 1 Nov 2019
Giannikou Krinio, Lasseter Kathryn D, Grevelink Joannes M, Tyburczy Magdalena E, Dies Kira A, Zhu Zachary, Hamieh Lana, Wollison Bruce M, Thorner Aaron R, Ruoss Stephen J, Thiele Elizabeth A, Sahin Mustafa, Kwiatkowski David J
Abstract excerpt
PURPOSE: 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. METHODS: Massively parallel sequencing was performed on 39 mosaic TSC patients with 170 different tissue samples. RESULTS: TSC mosaic patients (MVAF: 0-10%, median 1.7% in blood...
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