Resumo

CAICEDO-HERRERA, Gabriela; CANDELO, Estephania  e  PACHAJOA, Harry. Novel mutation in TSC2 gene in pediatric patient with clinical diagnosis of tuberous sclerosis. Arch. argent. pediatr. [online]. 2017, vol.115, n.5, pp.e287-e290. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2017.e287.

Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal dominant disorder that results from mutations within either the TSC1 gene or the TSC2 gene. Diagnosis is based on well-established clinical criteria or genetic criteria. Clinical features are highly variable and could be developing over the life. We present a case of TSC with a molecular test that identified a novel variant in TSC2 gene. It is a sporadic missense mutation which has not been previously reported in the literature. It is caused by premature termination of protein translation and results in the production of truncated and non-functional proteins. This mutation is considered as a pathogenic variant and allows to broaden the spectrum of variants of TSC2 gene as a cause of TSC.

Palavras-chave : Tuberous sclerosis 2; Phenotype; Genotype-phenotype correlation.

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