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Article

Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.

American journal of medical genetics. Part A - 1 Mar 2017

Fox Jonah, Ben-Shachar Shay, Uliel Shimrit, Svirsky Ran, Saitsu Hirotomo, Matsumoto Naomichi, Fattal-Valevski Aviva

Abstract excerpt

Tuberous sclerosis complex (TSC) is a neurocutaneous 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. We describe an 18-month-old boy who presented with seizures and a single hypopigmented macule. He did not meet consensus criteria for the clinical diagnosis of TSC. Exome sequencing revealed a...

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Source

Identifiers

PMID: 28127866
DOI: 10.1002/ajmg.a.38027

Genes

TSC2
TSC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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