Literature DB >> 16685657

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.

Capucine Delnatte1, Damien Sanlaville, Jean-Francois Mougenot, Joris-Robert Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Genevieve, Olivier Goulet, Jean-Pierre Fryns, Francis Jaubert, Michel Vekemans, Stanislas Lyonnet, Serge Romana, Charis Eng, Dominique Stoppa-Lyonnet.   

Abstract

We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these children are heterozygous for a germline deletion encompassing two contiguous genes, PTEN and BMPR1A. We hypothesize that juvenile polyposis of infancy is caused by the deletion of these two genes and that the severity of the disease reflects cooperation between these two tumor-suppressor genes.

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Year:  2006        PMID： 16685657      PMCID： PMC1474102          DOI： 10.1086/504301

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


  46 in total

1.  Del(10)(q22.3q24.1) associated with juvenile polyposis.

Authors:  R F Jacoby; S Schlack; G Sekhon; R Laxova
Journal:  Am J Med Genet       Date:  1997-06-27

2.  Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome.

Authors:  K D Tsuchiya; G Wiesner; S B Cassidy; C Limwongse; J T Boyle; S Schwartz
Journal:  Genes Chromosomes Cancer       Date:  1998-02       Impact factor: 5.006

3.  Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.

Authors:  E M Arch; B K Goodman; R A Van Wesep; D Liaw; K Clarke; R Parsons; V A McKusick; M T Geraghty
Journal:  Am J Med Genet       Date:  1997-09-05

4.  Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23.

Authors:  A F Zigman; J E Lavine; M C Jones; C R Boland; J M Carethers
Journal:  Gastroenterology       Date:  1997-11       Impact factor: 22.682

5.  Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation.

Authors:  D J Marsh; P L Dahia; V Coulon; Z Zheng; F Dorion-Bonnet; K M Call; R Little; A Y Lin; R A Eeles; A M Goldstein; S V Hodgson; A L Richardson; B G Robinson; H C Weber; M Longy; C Eng
Journal:  Genes Chromosomes Cancer       Date:  1998-01       Impact factor: 5.006

6.  Juvenile polyposis and gastrointestinal carcinoma. A study of a kindred.

Authors:  T J Stemper; T H Kent; R W Summers
Journal:  Ann Intern Med       Date:  1975-11       Impact factor: 25.391

7.  HiPER1, a phosphatase of the endoplasmic reticulum with a role in chondrocyte maturation.

Authors:  P R Romano; J Wang; R J O'Keefe; J E Puzas; R N Rosier; P R Reynolds
Journal:  J Cell Sci       Date:  1998-03       Impact factor: 5.285

8.  Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.

Authors:  P T Brook-Carter; B Peral; C J Ward; P Thompson; J Hughes; M M Maheshwar; M Nellist; V Gamble; P C Harris; J R Sampson
Journal:  Nat Genet       Date:  1994-12       Impact factor: 38.330

9.  Familial juvenile polyposis coli. A clinical and pathologic study of a large kindred.

Authors:  H W Grotsky; R R Rickert; W D Smith; J F Newsome
Journal:  Gastroenterology       Date:  1982-03       Impact factor: 22.682

10.  Malignant potential in intestinal juvenile polyposis syndromes.

Authors:  M C Coburn; V E Pricolo; F G DeLuca; K I Bland
Journal:  Ann Surg Oncol       Date:  1995-09       Impact factor: 5.344
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  35 in total

1.  Upper tract juvenile polyps in juvenile polyposis patients: dysplasia and malignancy are associated with foveolar, intestinal, and pyloric differentiation.

Authors:  Changqing Ma; Francis M Giardiello; Elizabeth A Montgomery
Journal:  Am J Surg Pathol       Date:  2014-12       Impact factor: 6.394

Review 2.  Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23.

Authors:  F S Dahdaleh; J C Carr; D Calva; J R Howe
Journal:  Clin Genet       Date:  2011-09-06       Impact factor: 4.438

3.  Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.

Authors:  Leonardo Salviati; Mariagrazia Patricelli; Graziella Guariso; Giacomo Carlo Sturniolo; Rita Alaggio; Franca Bernardi; Orsetta Zuffardi; Romano Tenconi
Journal:  Am J Hum Genet       Date:  2006-09       Impact factor: 11.025

Review 4.  The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes.

Authors:  Stefan Aretz
Journal:  Dtsch Arztebl Int       Date:  2010-03-12       Impact factor: 5.594

5.  The phenotype of recurrent 10q22q23 deletions and duplications.

Authors:  Bregje W M van Bon; Jorune Balciuniene; Gary Fruhman; Sandesh Chakravarthy Sreenath Nagamani; Diane L Broome; Elizabeth Cameron; Danielle Martinet; Eliane Roulet; Sebastien Jacquemont; Jacques S Beckmann; Mira Irons; Lorraine Potocki; Brendan Lee; Sau Wai Cheung; Ankita Patel; Melissa Bellini; Angelo Selicorni; Roberto Ciccone; Margherita Silengo; Annalisa Vetro; Nine V Knoers; Nicole de Leeuw; Rolph Pfundt; Barry Wolf; Petr Jira; Swaroop Aradhya; Pawel Stankiewicz; Han G Brunner; Orsetta Zuffardi; Scott B Selleck; James R Lupski; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

6.  Overlap of Juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance.

Authors:  Adebisi Alimi; Lauren A Weeth-Feinstein; Amy Stettner; Freddy Caldera; Jennifer M Weiss
Journal:  Am J Med Genet A       Date:  2015-04-05       Impact factor: 2.802

7.  High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

Authors:  S Aretz; D Stienen; S Uhlhaas; M Stolte; M M Entius; S Loff; W Back; A Kaufmann; K-M Keller; S H Blaas; R Siebert; S Vogt; S Spranger; E Holinski-Feder; L Sunde; P Propping; W Friedl
Journal:  J Med Genet       Date:  2007-09-14       Impact factor: 6.318

8.  A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.

Authors:  E Petrova; C Neuner; T Haaf; M Schmid; J Wirbelauer; A Jurkutat; K Wermke; I Nanda; E Kunstmann
Journal:  Mol Syndromol       Date:  2013-11-02

9.  Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.

Authors:  Laurent Castéra; Catherine Dehainault; Dorothée Michaux; Livia Lumbroso-Le Rouic; Isabelle Aerts; Francois Doz; Anna Pelet; Jérôme Couturier; Dominique Stoppa-Lyonnet; Marion Gauthier-Villars; Claude Houdayer
Journal:  Eur J Hum Genet       Date:  2012-08-22       Impact factor: 4.246

10.  Copy number variations and cancer.

Authors:  Adam Shlien; David Malkin
Journal:  Genome Med       Date:  2009-06-16       Impact factor: 11.117
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