Article
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
The Journal of clinical investigation - 16 May 2022
Klonowska Katarzyna, Grevelink Joannes M, Giannikou Krinio, Ogorek Barbara A, Herbert Zachary T, Thorner Aaron R, Darling Thomas N, Moss Joel, Kwiatkowski David J
Abstract excerpt
BackgroundTuberous sclerosis complex (TSC) is a neurogenetic syndrome due to loss-of-function mutations in TSC2 or TSC1, characterized by tumors at multiple body sites, including facial angiofibroma (FAF). Here, an ultrasensitive assessment of the extent and range of UV-induced mutations in TSC facial skin was performed.MethodsA multiplex high-sensitivity PCR assay (MHPA) was developed, enabling mutation...
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