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Titolo:
Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations
Autore:
Li, M; Squire, J; Shuman, C; Atkin, J; Pauli, R; Smith, A; Chitayat, D; Weksberg, R;
Indirizzi:
Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada Hosp Sick Children Toronto ON Canada M5G 1X8 Toronto, ON M5G 1X8, Canada Hosp Sick Children, Res Inst, Dept Genet & Genom Biol, Toronto, ON M5G 1X8, Canada Hosp Sick Children Toronto ON Canada M5G 1X8 Toronto, ON M5G 1X8, Canada Univ Toronto, Ontario Canc Inst, Dept Lab Med Pathobiol, Toronto, ON, Canada Univ Toronto Toronto ON Canada pt Lab Med Pathobiol, Toronto, ON, Canada Univ Toronto, Dept Med Biophys, Toronto, ON, Canada Univ Toronto Toronto ON Canada to, Dept Med Biophys, Toronto, ON, Canada Univ Toronto, Dept Med & Mol Genet, Toronto, ON, Canada Univ Toronto Toronto ON Canada Dept Med & Mol Genet, Toronto, ON, Canada Univ Toronto, Inst Med Sci, Toronto, ON M5S 1A1, Canada Univ Toronto Toronto ON Canada M5S 1A1 d Sci, Toronto, ON M5S 1A1, Canada Univ Toronto, Dept Paediat, Toronto, ON M5S 1A1, Canada Univ Toronto Toronto ON Canada M5S 1A1 ediat, Toronto, ON M5S 1A1, Canada Morristown Mem Hosp, Genet & Birth Defects Ctr, Morristown, NJ 07962 USA Morristown Mem Hosp Morristown NJ USA 07962 Ctr, Morristown, NJ 07962 USA Univ Wisconsin, Dept Med Genet, Madison, WI 53705 USA Univ Wisconsin Madison WI USA 53705 Dept Med Genet, Madison, WI 53705 USA Univ Wisconsin, Dept Pediat, Madison, WI 53705 USA Univ Wisconsin MadisonWI USA 53705 n, Dept Pediat, Madison, WI 53705 USA
Titolo Testata:
GENOMICS
fascicolo: 3, volume: 74, anno: 2001,
pagine: 370 - 376
SICI:
0888-7543(20010615)74:3<370:ISO1GI>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEPENDENT-KINASE INHIBITOR; GROWTH-FACTOR-II; P57(KIP2) MUTATIONS; HUMAN TISSUES; WILMS-TUMORS; H19; IGF2; CANCER; TRANSCRIPT; OVERGROWTH;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Weksberg, R Hosp Sick Children, Div Clin & Metab Genet, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Hosp Sick Children 555 Univ Ave Toronto ON Canada M5G 1X8 nada
Citazione:
M. Li et al., "Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations", GENOMICS, 74(3), 2001, pp. 370-376

Abstract

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by somatic overgrowth, congenital malformations, and predisposition to childhood tumors. Aberrant expression of multiple imprinted genes, including H19, IGF2, KCNQ1OT1, and CDKN1C, has been observed in BWS patients. It has been estimated that mutations in CDKN1C occur in 12-17% of BWS patients. We have screened 10 autosomal dominant pedigrees and 65 sporadic BWS cases by PCR/heteroduplex analysis and DNA sequencing and have identified four mutations, two of which were associated with biallelic IGF2 expression and normalH19 and KCNQ1OT1 imprinting. One patient demonstrated phenotypic expression of paternally transmitted mutation in this maternally expressed gene, a second proband is the child of one of a pair of monozygotic twin females whocarry the mutation:de novo, and a third patient exhibited unusual skeletalchanges more commonly found in other overgrowth syndromes. When consideredwith other studies published to date, this work reveals the frequency of CDKN1C mutations in BWS to be only 4.9%. This is the first report of an analysis of the imprinting status of genes in the 11p15 region where CDKN1C mutations were associated with loss of IGFS imprinting and maintenance of H19 and KCNQ1OT1 imprinting. (C) 2001 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/09/20 alle ore 07:14:25