Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

Socratis Avgeris, Florentia Fostira, Andromachi Vagena, Yiannis Ninios, Angeliki Delimitsou, Radek Vodicka, Radek Vrtel, Sotirios Youroukos, Dimitrios J. Stravopodis, Metaxia Vlassi, Aristotelis Astreinidis, Drakoulis Yannoukakos, Gerassimos E. Voutsinas

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Abstract

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder causing benign tumors in the brain and other vital organs. The genes implicated in disease development are TSC1 and TSC2. Here, we have performed mutational analysis followed by a genotype-phenotype correlation study based on the clinical characteristics of the affected individuals. Twenty unrelated probands or families from Greece have been analyzed, of whom 13 had definite TSC, whereas another 7 had a possible TSC diagnosis. Using direct sequencing, we have identified pathogenic mutations in 13 patients/families (6 in TSC1 and 7 in TSC2), 5 of which were novel. The mutation identification rate for patients with definite TSC was 85%, but only 29% for the ones with a possible TSC diagnosis. Multiplex ligation-dependent probe amplification (MLPA) did not reveal any genomic rearrangements in TSC1 and TSC2 in the samples with no mutations identified. In general, TSC2 disease was more severe than TSC1, with more subependymal giant cell astrocytomas and angiomyolipomas, higher incidence of pharmacoresistant epileptic seizures, and more severe neuropsychiatric disorders. To our knowledge, this is the first comprehensive TSC1 and TSC2 mutational analysis carried out in TSC patients in Greece.

Original languageEnglish (US)
Article number16697
JournalScientific reports
Volume7
Issue number1
DOIs
StatePublished - Dec 1 2017

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Tuberous Sclerosis
Greece
Genes
Angiomyolipoma
Mutation
Multiplex Polymerase Chain Reaction
Astrocytoma
Genetic Association Studies
Mutation Rate
Brain Neoplasms
Epilepsy
Incidence

All Science Journal Classification (ASJC) codes

  • General

Cite this

Avgeris, S., Fostira, F., Vagena, A., Ninios, Y., Delimitsou, A., Vodicka, R., ... Voutsinas, G. E. (2017). Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece. Scientific reports, 7(1), [16697]. https://doi.org/10.1038/s41598-017-16988-w

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece. / Avgeris, Socratis; Fostira, Florentia; Vagena, Andromachi; Ninios, Yiannis; Delimitsou, Angeliki; Vodicka, Radek; Vrtel, Radek; Youroukos, Sotirios; Stravopodis, Dimitrios J.; Vlassi, Metaxia; Astreinidis, Aristotelis; Yannoukakos, Drakoulis; Voutsinas, Gerassimos E.

In: Scientific reports, Vol. 7, No. 1, 16697, 01.12.2017.

Research output: Contribution to journalArticle

Avgeris, S, Fostira, F, Vagena, A, Ninios, Y, Delimitsou, A, Vodicka, R, Vrtel, R, Youroukos, S, Stravopodis, DJ, Vlassi, M, Astreinidis, A, Yannoukakos, D & Voutsinas, GE 2017, 'Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece', Scientific reports, vol. 7, no. 1, 16697. https://doi.org/10.1038/s41598-017-16988-w
Avgeris, Socratis ; Fostira, Florentia ; Vagena, Andromachi ; Ninios, Yiannis ; Delimitsou, Angeliki ; Vodicka, Radek ; Vrtel, Radek ; Youroukos, Sotirios ; Stravopodis, Dimitrios J. ; Vlassi, Metaxia ; Astreinidis, Aristotelis ; Yannoukakos, Drakoulis ; Voutsinas, Gerassimos E. / Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece. In: Scientific reports. 2017 ; Vol. 7, No. 1.
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