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Titolo:
Nijmegen breakage syndrome
Autore:
Hiel, JA; Weemaes, CM; van den Heuvel, LP; van Engelen, BG; Gabreels, FJ; Smeets, DF; van der Burgt, I; Chrzanovska, KH; Bernatowska, E; Krajewska-Walasek, M; Bialecka, M; Abramczuk, D; Gregorek, H; Michalkiewicz, I; Perek, D; Midro, AT; Seemanova, E; Belohradsky, BH; Solder, B; Barbi, G; Wegner, RD; Sperling, K; Dixon, J; Maraschio, P; Marseglia, GL; Green, A; Taylor, AM; Der Kaloustian, VM; Komatsu, K; Matsuura, S; Conley, ME; Concannon, P; Gatti, RA;
Indirizzi:
Univ Nijmegen Hosp, Dept Pediat, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp, Dept Neurol, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland Childrens Mem HlthInst Warsaw Poland t, Dept Med Genet, Warsaw, Poland Childrens Mem Hlth Inst, Dept Pathol, Warsaw, Poland Childrens Mem Hlth Inst Warsaw Poland Inst, Dept Pathol, Warsaw, Poland Med Acad Bialystok, Dept Clin Genet, Bialystok, Poland Med Acad BialystokBialystok Poland Dept Clin Genet, Bialystok, Poland Charles Univ, Dept Med Genet, Prague, Czech Republic Charles Univ PragueCzech Republic pt Med Genet, Prague, Czech Republic Univ Hosp, Dept Immunol, Munich, Germany Univ Hosp Munich GermanyUniv Hosp, Dept Immunol, Munich, Germany Univ Hosp, Dept Genet, Ulm, Germany Univ Hosp Ulm GermanyUniv Hosp, Dept Genet, Ulm, Germany Charite Humbold Univ, Inst Human Genet, Berlin, Germany Charite Humbold Univ Berlin Germany , Inst Human Genet, Berlin, Germany Wellington Hosp, Cent Reg Genet Serv, Wellington S, New Zealand WellingtonHosp Wellington S New Zealand erv, Wellington S, New Zealand Univ Hosp, Dept Pathol, Pavia, Italy Univ Hosp Pavia ItalyUniv Hosp, Dept Pathol, Pavia, Italy Univ Hosp, Dept Pediat Sci, Pavia, Italy Univ Hosp Pavia ItalyUniv Hosp, Dept Pediat Sci, Pavia, Italy Addenbrookes NHS Trust, Dept Clin Genet, Cambridge, England Addenbrookes NHS Trust Cambridge England Clin Genet, Cambridge, England Univ Birmingham, Sch Med, Dept Canc Studies, Birmingham, W Midlands, England Univ Birmingham Birmingham W Midlands England ngham, W Midlands, England McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3H 1P3, Canada McGill Univ Montreal PQ Canada H3H 1P3 Inst, Montreal, PQ H3H 1P3, Canada Hiroshima Univ, Dept Radiat Biol, Hiroshima, Japan Hiroshima Univ Hiroshima Japan Univ, Dept Radiat Biol, Hiroshima, Japan St Jude Childrens Res Hosp, Dept Immunol, Memphis, TN 38105 USA St Jude Childrens Res Hosp Memphis TN USA 38105 ol, Memphis, TN 38105 USA Univ Washington, Sch Med, Dept Immunol, Seattle, WA USA Univ Washington Seattle WA USA n, Sch Med, Dept Immunol, Seattle, WA USA Virginia Mason Res Ctr, Seattle, WA 98101 USA Virginia Mason Res Ctr Seattle WA USA 98101 es Ctr, Seattle, WA 98101 USA Univ Calif Los Angeles, Sch Med, Dept Pathol, Los Angeles, CA 90024 USA Univ Calif Los Angeles Los Angeles CA USA 90024 Los Angeles, CA 90024 USA
Titolo Testata:
ARCHIVES OF DISEASE IN CHILDHOOD
fascicolo: 5, volume: 82, anno: 2000,
pagine: 400 - 406
SICI:
0003-9888(200005)82:5<400:NBS>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHROMOSOMAL INSTABILITY DISORDER; ATAXIA-TELANGIECTASIA; GENE; IMMUNODEFICIENCY; VARIANT; PROTEIN; REPAIR; RISK;
Keywords:
NBS; NBS registry; clinical features; laboratory features; genotype; phenotype;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Weemaes, CM Univ Nijmegen Hosp, Dept Pediat, POB 9100, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp POB 9100 Nijmegen Netherlands NL-6500 HB s
Citazione:
J.A. Hiel et al., "Nijmegen breakage syndrome", ARCH DIS CH, 82(5), 2000, pp. 400-406

Abstract

Background-Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder. NBS-1, the gene defective in NBS, is located on chromosome 8q21 and has recently been cloned. The gene product, nibrin, is a novel protein, which is member of the hMre11/hRad50 protein complex, suggesting that the gene is involved in DNA double strand break repair. Aims-To study the clinical and laboratory features of NBS as well as the genotype-phenotype relation. Methods-Fifty five patients with NBS, included in the NBS registry in Nijmegen were evaluated. The majority of the patients were of eastern European ancestry. Most of them had shown a truncating 5 bp deletion 657-661 deLACAAA. Four further truncating mutations have been identified in patients with other distinct haplotypes. Results and conclusions-Essential features found in NBS were microcephaly,usually without severe retardation, typical facial appearance, immunodeficiency, chromosomal instability, x ray hypersensitivity, and predisposition to malignancy. In 40% of the patients cancer was noted before the age of 21years. Important additional features were skin abnormalities, particularlycafe au lait spots and vitiligo, and congenital malformations, particularly clinodactyly and syndactyly. Congenital malformations, immunodeficiency, radiation hypersensitivity, and cancer predispostion were comprehensible incase of dysfunctioning of DNA repair mechanisms. No specific genotype-phenotype relation could be found. Patients with the same genotype may show different phenotypes and patients with different genotypes may express the same phenotype. Specific mutations did not lead to specific clinical features.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 18:32:45