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  • 1 Pécsi Tudományegyetem, Általános Orvostudományi Kar, Pécs, Szigeti út 12., 7624
  • 2 Pécsi Tudományegyetem, Pécs
  • 3 Szegedi Tudományegyetem, Általános Orvostudományi Kar, Szeged
  • 4 Markusovoszky Egyetemi Oktatókórház, Szombathely
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Absztrakt:

A sclerosis tuberosa nagyfokú fenotípusos heterogenitást mutató ritka betegség, jellemző tünete a multiplex hamartomák megjelenése különböző szervekben. Autoszomális domináns öröklődésmenetet mutat, hátterében két génnek, a TSC1-nek, illetve a TSC2-nek a mutációi állnak. Jelen közleményünkben két fiú, illetve két középkorú nőbeteg esetét mutatjuk be, akiknél a TSC1/TSC2 génben Sanger-szekvenálással kóroki eltérést nem tudtunk igazolni, azonban a multiplex ligatiofüggő próba amplifikációjával különböző méretű deletiókat igazoltunk a TSC2 különböző régióiban. Valamennyi beteg hordozza a betegség jellegzetes vezető klinikai tüneteit, azonban az egyéni fenotípusos variabilitásuk rendkívüli módon különbözik. Közleményünkkel a nagyobb méretű géndeletiók relatív gyakori előfordulására hívjuk fel a figyelmet. Orv Hetil. 2017; 158(30): 1188–1194.

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