Új TSC1-mutációval társuló variábilis fenotípus sclerosis tuberosában | Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis

A sclerosis tuberosa a TSC1 vagy a TSC2 gen mutaciojara visszavezethető autoszomalis dominans betegseg, amely tumor kepződesre hajlamosit. A betegseg klinikai tunetei: nem malignus agyi tuberek, bőr-, szem-, sziv- es veserendellenessegek. Jelen kozlemenyben a szerzők egy szeles fenotipusos variabilitast mutato magyar csaladot ismertetnek. Elsőkent a legtobb tunetet mutato oteves kisfiu vizsgalatara kerult sor, akinel 15 honapos koraban eszleltek az első epilepszias rohamot, a koponya-MR szamos intracerebralis meszes gocot igazolt, hipopigmentalt foltokon kivul egyeb belszervi es neurologiai tunete nem volt. Az edesanya tunetmentes, az anyai nagybatyja haromeves kora, annak huga 17 eves kora, az anyai nagymama 39 eves kora ota epilepszias es 52 eves kora ota vesecisztai is vannak. A csalad molekularis genetikai vizsgalata a TSC1 gen 20-as exonjaban de novo pontmutaciot (c.2523 C\>T) igazolt a vizsgalt csaladtagokban. Bar a sclerosis tuberosa patomechanizmusara vonatkozolag egyre tobb adat all rendelkezere, megis keveset tudunk az intra- es interfamiliaris fenotipusos variabilitast befolyasolo genetikai modosito tenyezőkről. Orv. Hetil., 2013, 154, 914–918. | Tuberous sclerosis is an autosomal dominant disorder, caused by mutations of the TSC1 or TSC2 genes resulting in tumor predisposition. Clinical signs include non-malignant brain tumors, skin, eye, heart and kidney abnormalities. The authors report a Hungarian family with broad phenotypic variability. First, the 5-year-old boy, showing the most symptoms was examined, whose first seizure occurred at 15 months and a cranial magnetic resonance imaging revealed numerous intracerebral calcareous foci. Except of hypopigmented skin spots, no other abnormality was found on physical examination. The mother was completely asymptomatic. Epilepsy of the maternal uncle started at the age of 3 years, of his sister at the age of 17 years and of the maternal grandmother at the age of 39 years. At the age of 52 years the grandmother developed renal cysts. Molecular genetic analysis of the family confirmed a de novo heterozygous point mutation (c.2523 C\>T) in exon 20 of the TSC1 gene. The mutation was detected in all examined family members. Despite increasing data on the pathomechanism of tuberous sclerosis, there is still little known about the genetic modifying factors influencing the broad intra- and interfamilial phenotypic variability. Orv. Hetil., 2013, 154, 914–918.