Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.

ABSTRACT:

Purpose

To determine if mosaic tuberous sclerosis complex (TSC) can be stratified into subtypes that correspond with prognosis and extent of disease.

Methods

Next-generation sequencing of skin tumor and other samples was used to identify patients with mosaic pathogenic variants in TSC1 or TSC2. Extent of disease, onset age, and family history of TSC were determined through retrospective analysis of patient records.

Results

The median number of disease findings and age at penetrance differed between mosaic patients with asymmetrically distributed facial angiofibromas (4 findings, 24 years, n = 7), mosaic patients with bilaterally symmetric facial angiofibromas (8 findings, 10 years, n = 12), and germline TSC patients (10 findings, 4 years, n = 29). Cutaneous and intern

SUBMITTER: Treichel AM 

PROVIDER: S-EPMC7875483 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature