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Titolo:
Analysis of both TCS1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
Autore:
Niida, Y; Lawrence-Smith, N; Banwell, A; Hammer, E; Lewis, J; Beauchamp, RL; Sims, K; Ramesh, VL; Ozelius, L;
Indirizzi:
Massachusetts Gen Hosp, Mol Neurogenet Unit, Charlestown, MA USA Massachusetts Gen Hosp Charlestown MA USA enet Unit, Charlestown, MA USA Massachusetts Gen Hosp, Dept Neurol, Charlestown, MA USA Massachusetts GenHosp Charlestown MA USA pt Neurol, Charlestown, MA USA
Titolo Testata:
HUMAN MUTATION
fascicolo: 5, volume: 14, anno: 1999,
pagine: 412 - 422
SICI:
1059-7794(1999)14:5<412:AOBTAT>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
EKER RAT MODEL; GENE-2 PRODUCT; DIAGNOSTIC-CRITERIA; HETEROZYGOSITY; IDENTIFICATION; HAMARTOMAS; 9Q34; COMPLEX; DISEASE; HOMOLOG;
Keywords:
tuberous sclerosis complex; TSC1; TSC2; SSCP; hamartin; tuberin;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
45
Recensione:
Indirizzi per estratti:
Indirizzo: Ramesh, VL Massachusetts Gen Hosp E, Mol Neurogenet Unit, Bldg 149,13th St, Charlestown, MA 02129 USA Massachusetts Gen Hosp E Bldg 149,13th St Charlestown MA USA 02129
Citazione:
Y. Niida et al., "Analysis of both TCS1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis", HUM MUTAT, 14(5), 1999, pp. 412-422

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of multiple hamartomas involving many organs. About two thirds of the cases are sporadic and appear to represent. new mutations, With the cloning of two causative genes, TSC1 and TSC2 it is now possible to analyze both genes in TSC patients and identify germline mutations, Here we report the mutational analysis of the entire coding region of both TSC1 and TSC2 genes in 126 unrelated TSC patients, including 40 familial and 86 sporadic cases, by single-stranded conformational polymorphism (SSCP) analysis followed by direct sequencing. Mutations were identified in a total of 74 (59%) cases, including 16 TSC1 mutations (5 sporadic and 11 familial cases) and 58 TSC2 mutations (42 sporadic and 16 familial cases). Overall, significantly more TSC2 mutations were found in our population, with a relatively equal distribution of mutations between TSC1 and TSC2 among the familial cases, but a marked underrepresentation of TSC1 mutations among the sporadic cases (P = 0.0035, Fisher's exact test), All TSC1 mutations were predicted to be protein truncating. However, in TSC2 13 missense mutations were found, five clustering in the GAP-related domain and three others occurring in exon 16. Upon comparison of clinical manifestations, including the incidence of intellectual disability, we could not find any observable differences between TSC1 and TSC2 patients. Our data help define the distribution and spectrum of mutations associated with the TSC loci and will be useful for both understanding the function of these genes as well as generic counseling in patients with the disease. Hum Mutat 14:412-422, 1999, (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 00:06:50