Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

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...

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Veröffentlicht in:Genetics in medicine 2019-11, Vol.21 (11), p.2639-2643
Hauptverfasser: 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.
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Age
Biomedical and Life Sciences
Biomedicine
Brief Communication
Critical care
Disease transmission
Disease Transmission, Infectious - statistics & numerical data
Female
Genetics
Genotype
Hospitals
Human Genetics
Humans
Laboratory Medicine
Male
Mosaicism
Mutation
Natural history
Phenotype
Prevalence
Risk Factors
Tuberous sclerosis
Tuberous Sclerosis - epidemiology
Tuberous Sclerosis - genetics
Tuberous Sclerosis Complex 1 Protein - genetics
Tuberous Sclerosis Complex 2 Protein - genetics
Tumor Suppressor Proteins - genetics
United States
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Zusammenfassung: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 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  
ISSN:1098-3600
1530-0366
DOI:10.1038/s41436-019-0562-6