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Titolo:
FMR1 and the fragile X syndrome: Human genome epidemiology review
Autore:
Crawford, DC; Acuna, JM; Sherman, SL;
Indirizzi:
CDCP, Natl Ctr Birth Defects & Dev Disabilities, Atlanta, GA 30341 USA CDCP Atlanta GA USA 30341 fects & Dev Disabilities, Atlanta, GA 30341 USA CDCP, Epidem Intelligence Serv, Div Appl Publ Hlth Training, Program Epidemiol, Atlanta, GA 30341 USA CDCP Atlanta GA USA 30341 ining, Program Epidemiol, Atlanta, GA 30341 USA CDCP, Natl Ctr Chron Dis Prevent & Hlth Promot, Div Reprod Hlth, CDC,Assignee Louisiana Off Publ Hlth, Atlanta, GA 30341 USA CDCP Atlanta GA USA 30341 Louisiana Off Publ Hlth, Atlanta, GA 30341 USA Emory Univ, Sch Med, Dept Genet, Atlanta, GA 30322 USA Emory Univ AtlantaGA USA 30322 ch Med, Dept Genet, Atlanta, GA 30322 USA
Titolo Testata:
GENETICS IN MEDICINE
fascicolo: 5, volume: 3, anno: 2001,
pagine: 359 - 371
SICI:
1098-3600(200109/10)3:5<359:FATFXS>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
MENTAL-RETARDATION PROTEIN; RNA-BINDING PROTEIN; RAPID ANTIBODY-TEST; HAIR ROOT ANALYSIS; CGG-REPEAT; RETARDED MALES; PRENATAL-DIAGNOSIS; FULL MUTATION; DNA DIAGNOSIS; LEARNING-DIFFICULTIES;
Keywords:
fragile X syndrome; FMR1; FRAXA; mental retardation; epidemiology; review;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
154
Recensione:
Indirizzi per estratti:
Indirizzo: Crawford, DC CDCP, Natl Ctr Birth Defects & Dev Disabilities, 4770 Buford Highway NE,MSF-45, Atlanta, GA 30341 USA CDCP 4770 Buford Highway NE,MS F-45 Atlanta GA USA 30341 USA
Citazione:
D.C. Crawford et al., "FMR1 and the fragile X syndrome: Human genome epidemiology review", GENET MED, 3(5), 2001, pp. 359-371

Abstract

The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms of inherited mental retardation. The cognitive, behavioral, and physical phenotype varies by sex, with males being more severely affected because of the X-linked inheritance of the mutation. The disorder-causing mutation is the amplification of a CGG repeat in the 5 ' untranslated region of FMR1 located at Xq27.3. The fragile X CGG repeat has four forms: common (6-40 repeats), intermediate (41-60 repeats), premutation (61-200 repeats), and full mutation (> 200-230 repeats). Population-based studies suggest that the prevalence of the full mutation, the disorder-causing form of the repeat, ranges from 1/3,717 to 1/8,918 Caucasian males in the general population. The full mutation is also found in other racial/ethnic populations; however, few population-based studies exist for these populations. No population-based studies exist for the full mutation in a general female population. In contrast, several large, population-based studies exist for the premutation or carrier form of the disorder, with prevalence estimates ranging from 1/246 to 1/468 Caucasian females in the general population. For Caucasian males, the prevalence of the premutation is similar to1/1,000. Like the full mutation, little information exists for the premutation in other populations. Although no effective cure or treatment exists for the fragile X syndrome, all persons affected with the syndrome are eligible for early intervention services. The relatively high prevalence of the premutation and full mutation genotypes coupled with technological advances in genetic testing make the fragile X syndrome amenable to screening. The timing as well as benefits and harms associated with the different screening strategies are the subject of current research and discussion.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 23:15:13