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Titolo:
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
Autore:
Cheadle, JP; Gill, H; Fleming, N; Maynard, J; Kerr, A; Leonard, H; Krawczak, M; Cooper, DN; Lynch, S; Thomas, N; Hughes, H; Hulten, M; Ravine, D; Sampson, JR; Clarke, A;
Indirizzi:
Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med Cardiff S Glam Wales CF14 4XN CF14 4XN, S Glam, Wales Univ Glasgow, Gartnavel Royal Hosp, Dept Psychol Med, Glasgow G12 OXH, Lanark, Scotland Univ Glasgow Glasgow Lanark Scotland G12 OXH ow G12 OXH, Lanark, Scotland TVW Telethon Inst Child Hlth Res, W Perth, WA 6872, Australia TVW TelethonInst Child Hlth Res W Perth WA Australia 6872 872, Australia Univ Newcastle Upon Tyne, Dept Human Genet, Newcastle Upon Tyne NE2 4AA, Tyne & Wear, England Univ Newcastle Upon Tyne Newcastle Upon Tyne Tyne & Wear England NE2 4AA Univ Warwick, Dept Biol Sci, Coventry CV4 7AL, W Midlands, England Univ Warwick Coventry W Midlands England CV4 7AL 7AL, W Midlands, England
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 7, volume: 9, anno: 2000,
pagine: 1119 - 1129
SICI:
0964-6906(20000412)9:7<1119:LSAOTM>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
CPG-BINDING PROTEIN-2; X-LINKED INHERITANCE; HISTONE DEACETYLASE; CHROMOSOMAL PROTEIN; LINKAGE ANALYSIS; METHYLATED DNA; EXCLUSION MAP; REGION; LOCALIZATION; SUGGESTS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
44
Recensione:
Indirizzi per estratti:
Indirizzo: Clarke, A Univ Wales Coll Med, Inst Med Genet, Heath Pk, Cardiff CF14 4XN,S Glam, Wales Univ Wales Coll Med Heath Pk Cardiff S Glam Wales CF14 4XN Wales
Citazione:
J.P. Cheadle et al., "Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location", HUM MOL GEN, 9(7), 2000, pp. 1119-1129

Abstract

Mutations in the methyl-CpG-binding protein gene MECP2 at Xq28 cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder characterized by a period of stagnation followed by regression in the development of young girls, Mutations were sought in MECP2 in 48 females with classical sporadic RTT, seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT, Long distance PCRcoupled with long-read direct sequencing was employed to sequence the entire MECP2 gene coding region in all cases, Mutations were identified in 44/55 (80%) unrelated classical sporadic and familial RTT patients, but only 1/5 (20%) sporadic cases with suggestive but non-diagnostic features of RTT, Twenty-one different mutations were identified (12 missense, four nonsense and five frame-shift mutations); 14 of these were novel. All missense mutations were located either in the methyl-CpG-binding domain or in the transcription repression domain, Nine recurrent mutations were characterized in a total of 33 unrelated cases (73% of all cases with MECP2 mutations). Significantly milder disease was noted in patients carrying missense mutations ascompared with those with truncating mutations (P = 0.0023), and milder disease was associated with late as compared with early truncating mutations (P = 0.0190).

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/10/20 alle ore 11:30:53