GM09349

GM09349 LCL from B-Lymphocyte

Description:

TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2

Affected:

Yes

Sex:

Female

Age:

24 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Hereditary Cancers

Class

Other Disorders of Known Biochemistry

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Family Member

Relation to Proband

maternal cousin

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected maternal cousin of GM09432; hypomelanotic macules; member of a four generation family [family TS-15 in Smith et al. Genomics 6:105-114 (1990)] with 24 cases of tuberous sclerosis, some with only a mild form of the disease; donor subject carries a missense mutation in the GTPase activating protein homology region of the TSC2 gene due to an A-to-C transversion (CAG>CCG) at nucleotide position 4508 (4508A>C) which results in the substitution of proline for glutamine [GLN1503PRO (Q1503P)] at codon 1503 in exon 34

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

TSC2

Chromosomal Location

16p13.3

Allelic Variant 1

191092.0011; TUBEROUS SCLEROSIS, TYPE 2

Identified Mutation

GLN1503PRO; In a family with mild physical features of tuberous sclerosis (191100) in association with neuropsychiatric disorders, Khare et al. [J. Med. Genet. 38: 347-349 (2001)] reported an A-to-C transversion at nucleotide 4508 in exon 34 of the TSC2 gene. This mutation resulted in the substitution of a proline residue for a glutamine at codon 1503, which Khare et al. [J. Med. Genet. 38: 347-349 (2001)] pointed out is within a region with homology to rap1 GTPase-activating protein (600278). Khare et al. [J. Med. Genet. 38: 347-349 (2001)] also found this mutation in an unrelated family from the same geographic area.

Phenotypic Data

Remarks

Publications

Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H, Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States Genetics in medicine : official journal of the American College of Medical Genetics9:88-100 2007

PubMed ID: 17304050

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