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Titolo:
NF1 gene and neurofibromatosis 1
Autore:
Rasmussen, SA; Friedman, JM;
Indirizzi:
Ctr Dis Control & Prevent, Div Birth Defects & Dev Disabil, Atlanta, GA 30341 USA Ctr Dis Control & Prevent Atlanta GA USA 30341 bil, Atlanta, GA 30341 USA Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia Vancouver BC Canada d Genet, Vancouver, BC, Canada
Titolo Testata:
AMERICAN JOURNAL OF EPIDEMIOLOGY
fascicolo: 1, volume: 151, anno: 2000,
pagine: 33 - 40
SICI:
0002-9262(20000101)151:1<33:NGAN1>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
AU-LAIT SPOTS; TYPE-1 NEUROFIBROMATOSIS; VONRECKLINGHAUSEN NEUROFIBROMATOSIS; SOMATIC MOSAICISM; MUTATION-RATE; SPINAL NEUROFIBROMATOSIS; CONSENSUS STATEMENT; WATSON SYNDROME; NOONAN-SYNDROME; TASK-FORCE;
Keywords:
neurofibromatosis; neurofibromatosis 1;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
58
Recensione:
Indirizzi per estratti:
Indirizzo: Rasmussen, SA Ctr Dis Control & Prevent, Div Birth Defects & Dev Disabil, 4770 Buford Highway NE,MS F 45, Atlanta, GA 30341 USA Ctr Dis Control & Prevent 4770 Buford Highway NE,MS F 45 Atlanta GA USA 30341
Citazione:
S.A. Rasmussen e J.M. Friedman, "NF1 gene and neurofibromatosis 1", AM J EPIDEM, 151(1), 2000, pp. 33-40

Abstract

Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is anautosomal dominant condition caused by mutations of the NF1 gene, which islocated at chromosome 17q11.2, NF1 is believed to be completely penetrant,but substantial variability in expression of features occurs. Diagnosis ofNF1 is based on established clinical criteria. The presentation of many ofthe clinical features is age dependent. The average life expectancy of patients with NF1 is probably reduced by 10-15 years, and malignancy is the most common cause of death. The prevalence of clinically diagnosed NF1 rangesfrom 1/2,000 to 1/5,000 in most population-based studies, A wide variety of NF1 mutations has been found in patients with NF1, but no frequently recurring mutation has been identified. Most studies have not found an obvious relation between particular NF1 mutations and the resulting clinical manifestations. The variability of the NF1 phenotype, even in individuals with the same NF1 gene mutation, suggests that other factors are involved in determining the clinical manifestations, but the nature of these factors has notyet been determined. Laboratory testing for NF1 mutations is difficult. A protein truncation test is commercially available, but its sensitivity, specificity, and predictive value have not been established, No general, population-based molecular studies of NF1 mutations have been performed. At thistime, it appears that the benefits of population-based screening for clinical features of NF1 would not outweigh the costs of screening.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/03/20 alle ore 00:53:03