A novel TSC2 variant cosegregating with TSC in the family: A case report.

RATIONALE

Tuberous sclerosis complex is a multisystem genetic disorder caused by variant of TSC1 or TSC2, which were defined as an independent diagnostic criterion for TSC.

PATIENT CONCERNS

We present a novel hereditary variant in a family. The family showed a phenomenon of familial aggregation in the Tuberous sclerosis complex.

DIAGNOSES

The proband had the c.3974del (exon 33) (p.Gly1325Alafs*58) loss of heterozygosity frameshift in the TSC2 gene (chr16), which was 1 base deletion on the coding sequence of TSC2, leading to a frameshift mutation. Moreover, the novel variant occurred in the grandchildren (generation 3) also can be detected in the grandparental (generation 1) and parental (generation 2).

INTERVENTIONS

The proband had taken antiepileptic drugs (oxcarbazepine [30 mg/(kg·day)], depakine [28 mg/(kg·day)], levetiracetam [38 mg/(kg·day)], and lamotrigine [2 mg/(kg·day)]) and performed a right parietal resection of the epileptic lesion.

OUTCOMES

The treatment received by the proband was ineffective.

LESSONS

The novel gene mutation sites to be found provide more research entry points for genetic diagnosis, providing new clinical data for tuberous sclerosis complex research.