Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a neurogenetic disorder due to loss-of-function TSC1 or TSC2 variants, characterized by tumors affecting multiple organs, including skin, brain, heart, lung, and kidney. Mosaicism for TSC1 or TSC2 variants occurs in 10%–15% of individuals diagnosed with TSC. Here,...

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Veröffentlicht in:American journal of human genetics 2023-06, Vol.110 (6), p.979-988
Hauptverfasser: Klonowska, Katarzyna, Giannikou, Krinio, Grevelink, Joannes M., Boeszoermenyi, Barbara, Thorner, Aaron R., Herbert, Zachary T., Afrin, Antara, Treichel, Alison M., Hamieh, Lana, Kotulska, Katarzyna, Jozwiak, Sergiusz, Moss, Joel, Darling, Thomas N., Kwiatkowski, David J.
Format: Artikel
Sprache:eng
Schlagworte:
Humans
low-level mosaicism
massively parallel sequencing
Mutation
Phenotype
TSC angiofibroma
TSC angiomyolipoma
TSC1
TSC2
Tuberous Sclerosis - genetics
Tuberous Sclerosis - pathology
tuberous sclerosis complex
Tuberous Sclerosis Complex 1 Protein - genetics
Tuberous Sclerosis Complex 2 Protein - genetics
Tumor Suppressor Proteins - genetics
variant detection
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Zusammenfassung:Tuberous sclerosis complex (TSC) is a neurogenetic disorder due to loss-of-function TSC1 or TSC2 variants, characterized by tumors affecting multiple organs, including skin, brain, heart, lung, and kidney. Mosaicism for TSC1 or TSC2 variants occurs in 10%–15% of individuals diagnosed with TSC. Here, we report comprehensive characterization of TSC mosaicism by using massively parallel sequencing (MPS) of 330 TSC samples from a variety of tissues and fluids from a cohort of 95 individuals with mosaic TSC. TSC1 variants in individuals with mosaic TSC are much less common (9%) than in germline TSC overall (26%) (p 
ISSN:0002-9297
1537-6605
DOI:10.1016/j.ajhg.2023.04.002