Literature DB >> 2565083

Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.

A J Ping1, A E Reeve, D J Law, M R Young, M Boehnke, A P Feinberg.   

Abstract

Beckwith-Wiedemann syndrome (BWS), characterized by multiorgan developmental abnormalities and predisposition to cancer, usually occurs sporadically, but small apparently dominant pedigrees have been described. Since rare patients show varying karyotypic abnormalities on the short arm of chromosome 11, it has been suggested that BWS may be related to the Wilms tumor gene on 11p13 or, alternatively, to growth factor genes on 11p15. We performed genetic linkage analysis on two BWS kindreds, using RFLPs for loci on 11p. BWS was linked to the insulin gene (11p15.5), with an overall maximum lod score of 3.60 (recombination fraction = .00). Linkage to D11S16 (11p13) could be excluded for recombination fractions less than or equal to .03. These results suggest that BWS defines a tumor-predisposition gene on 11p15.

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Year:  1989        PMID： 2565083      PMCID： PMC1715646     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  19 in total

1.  Sequential tests for the detection of linkage.

Authors:  N E MORTON
Journal:  Am J Hum Genet       Date:  1955-09       Impact factor: 11.025

2.  Programs for Pedigree Analysis: MENDEL, FISHER, and dGENE.

Authors:  K Lange; D Weeks; M Boehnke
Journal:  Genet Epidemiol       Date:  1988       Impact factor: 2.135

3.  Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins.

Authors:  A H Olney; B A Buehler; M Waziri
Journal:  Am J Med Genet       Date:  1988-03

4.  Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

Authors:  G I Bell; J H Karam; W J Rutter
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

5.  Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.

Authors:  A Koufos; P Grundy; K Morgan; K A Aleck; T Hadro; B C Lampkin; A Kalbakji; W K Cavenee
Journal:  Am J Hum Genet       Date:  1989-05       Impact factor: 11.025

6.  Incidence of childhood cancer: experience of a decade in a population-based registry.

Authors:  S Kramer; A T Meadows; P Jarrett; A E Evans
Journal:  J Natl Cancer Inst       Date:  1983-01       Impact factor: 13.506

7.  Deletion of chromosome 11(p11p13) in a patient with Beckwith-Wiedemann syndrome.

Authors:  S M Schmutz
Journal:  Clin Genet       Date:  1986-09       Impact factor: 4.438

Review 8.  Genetics of human cancer.

Authors:  A G Knudson
Journal:  Annu Rev Genet       Date:  1986       Impact factor: 16.830

9.  Age distribution of Wilms' tumor: report from the National Wilms' Tumor Study.

Authors:  N Breslow; J B Beckwith; M Ciol; K Sharples
Journal:  Cancer Res       Date:  1988-03-15       Impact factor: 12.701

10.  Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism.

Authors:  A Koufos; M F Hansen; N G Copeland; N A Jenkins; B C Lampkin; W K Cavenee
Journal:  Nature       Date:  1985 Jul 25-31       Impact factor: 49.962
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  73 in total

Review 1.  Mechanisms of genomic imprinting.

Authors:  K Pfeifer
Journal:  Am J Hum Genet       Date:  2000-09-05       Impact factor: 11.025

2.  Cloning, expression and localization of human BM88 shows that it maps to chromosome 11p15.5, a region implicated in Beckwith-Wiedemann syndrome and tumorigenesis.

Authors:  M Gaitanou; P Buanne; C Pappa; N Georgopoulou; A Mamalaki; F Tirone; R Matsas
Journal:  Biochem J       Date:  2001-05-01       Impact factor: 3.857

Review 3.  Close yet so far away: a look into the management strategies of genetic imprinting disorders.

Authors:  Mark A Pianka; Alec T McIntosh; Sahaj D Patel; Pegah R Bakhshi; Mira Jung
Journal:  Am J Stem Cells       Date:  2018-10-01

4.  Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma.

Authors:  J Anderson; A Gordon; A McManus; J Shipley; K Pritchard-Jones
Journal:  Neoplasia       Date:  1999-10       Impact factor: 5.715

5.  Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting.

Authors:  M P Lee; M R DeBaun; K Mitsuya; H L Galonek; S Brandenburg; M Oshimura; A P Feinberg
Journal:  Proc Natl Acad Sci U S A       Date:  1999-04-27       Impact factor: 11.205

6.  Placental mesenchymal dysplasia, a case of intrauterine sudden death of fetus with rupture of cirsoid periumbilical chorionic vessels.

Authors:  Takeshi Umazume; Soromon Kataoka; Kyouko Kamamuta; Fumie Tanuma; Akihiko Sumie; Toru Shirogane; Takayuki Kudou; Hitoshi Ikeda
Journal:  Diagn Pathol       Date:  2011-04-24       Impact factor: 2.644

7.  Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11.

Authors:  A Nyström; J E Cheetham; W Engström; P N Schofield
Journal:  Eur J Pediatr       Date:  1992-07       Impact factor: 3.183

8.  Mapping of 262 DNA markers into 24 intervals on human chromosome 11.

Authors:  A Tanigami; T Tokino; S Takiguchi; M Mori; T Glaser; J W Park; C Jones; Y Nakamura
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

9.  Genetic mapping of the human tryptophan hydroxylase gene on chromosome 11, using an intronic conformational polymorphism.

Authors:  D A Nielsen; M Dean; D Goldman
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

10.  Congenital anomalies and genetic disorders in families of children with central nervous system tumours.

Authors:  S M Jones; P C Phillips; P T Molloy; B J Lange; M N Needle; J A Biegel
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318
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