Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Tuberöse Sklerose 2

Tuberöse Sklerose 2 ist eine autosomal dominante Erkrankung, die durch Mutationen im TSC2-Gen ausgelöst wird und durch INFG-Varianten modifiziert werden kann. Die Erkrankung ist durch multisystemische Hamartome in Haut, Gehirn, Nieren, Lungen und Herz, welche in unterschiedlichem Alter auftreten, charakterisiert.

Gliederung

Tuberöse Sklerose Komplex
Tuberöse Sklerose 1
Tuberöse Sklerose 2
IFNG
TSC2

Referenzen:

1.

Liang N et al. (2014) Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex.

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2.

Roberts PS et al. (2002) SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

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3.

Brackley KJ et al. (1999) Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation.

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4.

McMaster ML et al. (2011) Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population.

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5.

Muzykewicz DA et al. (2009) TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.

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6.

Chu-Shore CJ et al. (2009) Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex.

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7.

Curatolo P et al. (2008) Tuberous sclerosis.

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8.

Jansen FE et al. (2008) Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.

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9.

Lewis JC et al. (2004) Genotype and psychological phenotype in tuberous sclerosis.

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10.

Verhoef S et al. (1999) High rate of mosaicism in tuberous sclerosis complex.

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11.

Sancak O et al. (2005) Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

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12.

Povey S et al. (1994) Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

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13.

Dabora SL et al. (2002) Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.

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14.

Au KS et al. (2007) Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

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15.

Jansen AC et al. (2006) Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

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16.

Crino PB et al. (2006) The tuberous sclerosis complex.

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17.

Martin N et al. (2003) Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene.

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18.

Khare L et al. (2001) A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.

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19.

Dabora SL et al. (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

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20.

Roach ES et al. (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.

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21.

Vrtel R et al. (1996) Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

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22.

Verhoef S et al. (1995) Somatic mosaicism and clinical variation in tuberous sclerosis complex.

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23.

Kumar A et al. (1995) A de novo frame-shift mutation in the tuberin gene.

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24.

None (1971) Mutation and cancer: statistical study of retinoblastoma.

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Update: 14. August 2020
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