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Titolo:
EXON SCANNING OF THE ENTIRE TSC2 GENE FOR GERMLINE MUTATIONS IN 40 UNRELATED PATIENTS WITH TUBEROUS SCLEROSIS
Autore:
BEAUCHAMP RL; BANWELL A; MCNAMARA P; JACOBSEN M; HIGGINS E; NORTHRUP H; SHORT P; SIMS K; OZELIUS L; RAMESH V;
Indirizzi:
MASSACHUSETTS GEN HOSP EAST,MOL NEUROGENET UNIT,BLD 149,13TH ST CHARLESTOWN MA 02129 MASSACHUSETTS GEN HOSP EAST,MOL NEUROGENET UNIT CHARLESTOWN MA 02129 UNIV TEXAS,SCH MED,DEPT PEDIAT HOUSTON TX 00000 UNIV CHICAGO,SCH MED,DEPT CHILD NEUROL CHICAGO IL 60637 MASSACHUSETTS GEN HOSP,DEPT NEUROL CHARLESTOWN MA 02129
Titolo Testata:
Human mutation
fascicolo: 6, volume: 12, anno: 1998,
pagine: 408 - 416
SICI:
1059-7794(1998)12:6<408:ESOTET>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYCYSTIC KIDNEY-DISEASE; HETEROGENEITY; IDENTIFICATION; CHROMOSOME-9; COMPLEX; POLYMORPHISMS; HOMOLOG; MARKER; FAMILY; LOCUS;
Keywords:
TUBEROUS SCLEROSIS COMPLEX; TSC2; MUTATIONS; SSCP; TUBERIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
31
Recensione:
Indirizzi per estratti:
Citazione:
R.L. Beauchamp et al., "EXON SCANNING OF THE ENTIRE TSC2 GENE FOR GERMLINE MUTATIONS IN 40 UNRELATED PATIENTS WITH TUBEROUS SCLEROSIS", Human mutation, 12(6), 1998, pp. 408-416

Abstract

Tuberous sclerosis complex (TSC) is a dominantly inherited multisystem disorder resulting in the development of hamartomatous growths in many organs. Genetic heterogeneity has been demonstrated linking the familial cases to either TSC1 at 9q34,3, or TSC2 at 16p13,3, About two thirds of the TSC cases are sporadic and appear to represent new mutations. While both genes are thought to account for all familial cases, with each representing approximately 50% of the mutations, the proportion of sporadic cases with mutations in TSC1 and TSC2 is yet to be determined. We have examined the entire coding sequence of the TSC2 gene in20 familial and 20 sporadic cases and identified a total of twenty one mutations representing 50% and 55% of familial and sporadic cases respectively. Our rate of mutation detection is significantly higher than other published reports. Twenty out of 21 mutations are novel and include 6 missense, 6 nonsense, 5 frameshifts, 2 splice alterations, a 34 bp deletion resulting in abnormal splicing, and an 18 bp deletion which maintains the reading frame. The mutations are distributed throughout the coding sequence with no specific hot spots. There is no apparent correlation between mutation type and clinical severity of the disease. Our results document that at least 50% of sporadic cases arise from mutations in the TSC2 gene, The location of the mutations describedhere, particularly the mis sense events, should be valuable for further functional analysis of this tumor suppressor protein. Hum Mutat 12:408-416, 1998, (C) 1998 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 00:46:22