Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes.

ABSTRACT: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of benign tumors and lesions in multiple organ systems. The syndrome arises from heterozygous mutations in either TSC1 or TSC2. In this study, we identified a family with a TSC1 c.363 + 668G > C mutation exhibiting diverse clinical phenotypes. The proband and affected family members exhibited multifocal nodular pneumocyte hyperplasia (MMPH), renal hamartomas, bone marrow hyperplasia, and pulmonary lymphangioleiomyomatosis (LAM), with genetic co-segregation analysis confirming the association between the mutation and the clinical phenotype. Genetic co-segregation analysis demonstrated that the TSC1 c.363 + 668G > C mutation was consistently associated with the observed clinical featur

SUBMITTER: Yao XJ 

PROVIDER: S-EPMC12241344 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature