Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
HIGH FUNCTIONING FRAGILE-X MALES - DEMONSTRATION OF AN UNMETHYLATED FULLY EXPANDED FMR-1 MUTATION ASSOCIATED WITH PROTEIN EXPRESSION
Autore:
HAGERMAN RJ; HULL CE; SAFANDA JF; CARPENTER I; STALEY LW; OCONNOR RA; SEYDEL C; MAZZOCCO MMM; SNOW K; THIBODEAU SN; KUHL D; NELSON DL; CASKEY CT; TAYLOR AK;
Indirizzi:
UNIV COLORADO,CHILDRENS HOSP,HLTH SCI CTR,CHILD DEV UNIT B140,1056 E 19TH AVE DENVER CO 80218 UNIV COLORADO,HLTH SCI CTR,DEPT PEDIAT DENVER CO 80262 UNIV COLORADO,HLTH SCI CTR,DNA DIAGNOST LAB DENVER CO 00000 MAYO CLIN & MAYO FDN,MOLEC GENET LAB ROCHESTER MN 00000 BAYLOR COLL MED,INST MOLEC GENET HOUSTON TX 77030 BAYLOR COLL MED,HOWARD HUGHES MED INST HOUSTON TX 00000
Titolo Testata:
American journal of medical genetics
fascicolo: 4, volume: 51, anno: 1994,
pagine: 298 - 308
SICI:
0148-7299(1994)51:4<298:HFFM-D>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKED MENTAL-RETARDATION; PRENATAL-DIAGNOSIS; MACRO-ORCHIDISM; 2 FAMILIES; I LOCUS; SITE; DNA; METHYLATION; IDENTIFICATION; INSTABILITY;
Keywords:
FRAGILE X SYNDROME; MARTIN-BELL SYNDROME; FMR-1 GENE; METHYLATION; MOSAIC; HIGH FUNCTIONING;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
61
Recensione:
Indirizzi per estratti:
Citazione:
R.J. Hagerman et al., "HIGH FUNCTIONING FRAGILE-X MALES - DEMONSTRATION OF AN UNMETHYLATED FULLY EXPANDED FMR-1 MUTATION ASSOCIATED WITH PROTEIN EXPRESSION", American journal of medical genetics, 51(4), 1994, pp. 298-308

Abstract

Fragile X (fra(X)) males with a standardized IQ score of 70 or higherrepresent a high functioning (HF) or nonretarded fra(X) male group. This group, which does not include nonpenetrant males, has received little research attention to date. Of 221 fra(X) males who had been evaluated through The Children's Hospital in Denver since 1981 and had completed cognitive or developmental testing, 29 (13%) were high functioning by the above definition. We found that HF males on the whole had a lower cytogenetic score and were younger than retarded fra(X) males, but there was no difference between these two groups in the number of typical fra(X) physical manifestations present. FMR-1 DNA testing was performed on 134 fra(X) males and methylation status was determined for51 of these. A greater percentage of HF males had a mosaic pattern oran incompletely methylated full mutation than did retarded males. A unique DNA pattern, an unmethylated fully expanded mutation, was discovered in 3 of the highest functioning fra(X) males. Protein studies performed on 2 of these males demonstrated the presence of FMR-1 protein,albeit at lower levels than normal. FMR-1 protein was not present in retarded fra(X) males. Significant FMR-1 protein expression may be responsible for higher cognitive functioning in the 2 males with unmethylated fully expanded mutations compared to retarded fra(X) males. (C) 1994 Wiley-Liss, Inc.,Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/07/20 alle ore 15:26:15