A nagyobb méretű géndeletiók jelentősége a sclerosis tuberosa diagnosztikájában: az első magyar esetek bemutatása | Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases

Absztrakt: A sclerosis tuberosa nagyfoku fenotipusos heterogenitast mutato ritka betegseg, jellemző tunete a multiplex hamartomak megjelenese kulonboző szervekben. Autoszomalis dominans oroklődesmenetet mutat, hattereben ket gennek, a TSC1-nek, illetve a TSC2-nek a mutacioi allnak. Jelen kozlemenyunkben ket fiu, illetve ket kozepkoru nőbeteg esetet mutatjuk be, akiknel a TSC1/TSC2 genben Sanger-szekvenalassal koroki elterest nem tudtunk igazolni, azonban a multiplex ligatiofuggő proba amplifikaciojaval kulonboző meretű deletiokat igazoltunk a TSC2 kulonboző regioiban. Valamennyi beteg hordozza a betegseg jellegzetes vezető klinikai tuneteit, azonban az egyeni fenotipusos variabilitasuk rendkivuli modon kulonbozik. Kozlemenyunkkel a nagyobb meretű gendeletiok relativ gyakori előfordulasara hivjuk fel a figyelmet. Orv Hetil. 2017; 158(30): 1188–1194. | 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. Orv Hetil. 2017; 158(30): 1188–1194.