Identification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex: A case report.

ABSTRACT:

Rationale

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by facial angiofibromas, epilepsy, intellectual disability, and the development of hamartomas in several organs, including the heart, kidneys, brain, and lungs. Mutations in either TSC1 or TSC2 result in dysregulated mTOR activation, leading to the occurrence of TSC.

Patient concerns

A 44-year-old man was hospitalized for acute lumbago and hematuria.

Diagnosis

The patient presented with facial angiofibromas, epilepsy, fibrous plaques, periungual fibroma, renal angiomyolipomas (AML), pulmonary lymphangioleiomyomatosis (LAM), liver hamartomas, and osteosclerosis. A diagnosis of TSC was made based on clinical manifestations.

Interventions

Next-generation sequencing (

SUBMITTER: Liu L 

PROVIDER: S-EPMC8772658 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature