A nagyobb méretü géndeletiók jelentösége a sclerosis tuberosa diagnosztikájában: az elsö magyar esetek bemutatása

Translated title of the contribution: Importance of gross deletions in the diagnosis of tuberous sclerosis complex: The first Hungarian cases

Kövesdi Erzsébet, Bene Judit, Nagy Nikoletta, Horváth Ágnes, Melegh Béla, Hadzsiev Kinga

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Tuberous sclerosis complex is a rare disease with high phenotypic heterogeneity, characterized by the appearance of multiplex hamartomas in the different organs. The disease is inherited by autosomal dominant manner, due to the mutations of two genes: the TSC1 or the TSC2. In this publication we present the cases of two young male and two middle-aged female patients, where pathogenetic differences of TSC1/TSC2 could not be verified by Sanger sequencing. However, multiplex ligation-dependent probe amplification confirmed different sizes of deletions in different regions of the TSC2 gene. All patients carry the typical clinical signs of the disease. However, the individual phenotypic variability is very different. With this manuscript, we would like to draw attention to the relative frequent rate of gross gene deletions.

Translated title of the contributionImportance of gross deletions in the diagnosis of tuberous sclerosis complex: The first Hungarian cases
Original languageHungarian
Pages (from-to)1188-1194
Number of pages7
JournalOrvosi hetilap
Volume158
Issue number30
DOIs
Publication statusPublished - Jul 2017

ASJC Scopus subject areas

  • Medicine(all)

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