Description:
TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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3
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Relation to Proband
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half-brother
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
TSC2 |
| Chromosomal Location |
16p13.3 |
| Allelic Variant 1 |
L823fsX882; TUBEROUS SCLEROSIS, TYPE 2 |
| Identified Mutation |
2468insT |
| Remarks |
Clinically affected; diagnosed with epilepsy at age 10 mo.; at age 2 yrs with TS; skin lesions at 10 mo.; height 165 cm and weight 65.3 kg at age 18 yr; numerous adenofibromas about face; shagreen patches; CT scan of brain revealed multiple punctate calcifications along periphery of lateral ventricles, consistent with calcified tubers of TS, parenchymal calcifications noted in right frontal and left temporo-parietal regions, bilobed or mushroom-shaped mass in the region of the left foramen of Monro (~2 x 2.5 cm); renal ultrasound showed numerous bilateral echogenic masses throughout both kidneys, most likely representing angiomyolipomas, associated with TS, the largest measured 3.5 x 2.5 cm; CT scan of kidneys revealed innumerable low density lesions thought out both kidneys, consistent with angiomyolipomas; MRI of the head showed findings consistent with residual or recurrent tumor in the region of the foramen of Monro (subependymal giant cell astrocytoma); son of GM08584; donor subject has a 1 bp insertion at nucleotide 2468 in exon 21 of the TSC2 gene (2468insT) causing a frameshift (Leu823fsX882) |
| Smith M, Smalley S, Cantor R, Pandolfo M, Gomez MI, Baumann R, Flodman P, Yoshiyama K, Nakamura Y, Julier C, et al, Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23. Genomics6(1):105-14 1990 |
| PubMed ID: 2303253 |
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| Wendt, Genetic counseling for the offspring of a clinically asymptomatic obligate carrier of the tuberous sclerosis gene. Am J Hum Genet37:A138 (1985):105-14 1985 |
| PubMed ID: 2303253 |
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