title: Juvenile polyposis syndrome.
abstract: Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with family history and, in the case of juvenile polyps, their occurrence also outside the large intestine. The JPS is caused by mutations in SMAD4 and BMPR1A. Products of the SMAD4 gene are involved in signal transduction in the transforming growth factor β pathway and BMPR1A protein is a receptor belonging to the family of transmembrane serine/threonine kinases. Both proteins are responsible for processes determining appropriate development of colonic mucosa. The JPS belongs to the group of hamartomatous polyposes. The hamartomatous polyposis syndromes constitute a group of diseases in which manifestations differ slightly and only molecular diagnostics gives the possibility of verifying the clinical diagnosis.
authors.affiliation: Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Wojciech
authors.initials: W
authors.lastname: Cichy
authors.affiliation: Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Klincewicz
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Plawski
keywords: BMPR1A gene; SMAD4 gene; juvenile polyposis; juvenile polyposis syndrome
references.citation: J Med Genet. 2004 May;41(5):323-6
references.pmid: 15121767
references.citation: EMBO J. 2000 Apr 17;19(8):1745-54
references.pmid: 10775259
references.citation: Genes Dev. 1998 Aug 15;12(16):2445-62
references.pmid: 9716398
references.citation: Ann Surg Oncol. 2002 Nov;9(9):901-6
references.pmid: 12417513
references.citation: Curr Biol. 1997 Apr 1;7(4):270-6
references.pmid: 9094310
references.citation: Nat Genet. 2001 Jun;28(2):184-7
references.pmid: 11381269
references.citation: Clin Pediatr (Phila). 2011 Oct;50(10):910-5
references.pmid: 21576185
references.citation: Hum Mol Genet. 1998 Nov;7(12):1907-12
references.pmid: 9811934
references.citation: Gut. 2000 May;46(5):656-60
references.pmid: 10764709
references.citation: Gut. 2002 Oct;51 Suppl 5:V21-7
references.pmid: 12221036
references.citation: Ann Surg Oncol. 1995 Sep;2(5):386-91
references.pmid: 7496832
references.citation: Med Sci Monit. 2009 Dec;15(12):CS169-73
references.pmid: 19946237
references.citation: Histopathology. 1988 Dec;13(6):619-30
references.pmid: 2853131
references.citation: Mol Cell. 1998 Mar;1(4):611-7
references.pmid: 9660945
references.citation: Thorax. 2010 Aug;65(8):745-6
references.pmid: 20685751
references.citation: Genes Dev. 2005 Dec 1;19(23):2783-810
references.pmid: 16322555
references.citation: Science. 1998 May 15;280(5366):1086-8
references.pmid: 9582123
references.citation: Gastroenterol Nurs. 2006 Jan-Feb;29(1):16-22; quiz 23-4
references.pmid: 16552295
references.citation: Curr Probl Surg. 1999 Apr;36(4):217-323
references.pmid: 10212621
references.citation: J Pediatr Surg. 1997 Sep;32(9):1287-90
references.pmid: 9314244
references.citation: Am J Hum Genet. 1998 May;62(5):1129-36
references.pmid: 9545410
references.citation: J Clin Oncol. 2005 Mar 20;23(9):2078-93
references.pmid: 15774796
references.citation: Am J Hum Genet. 2002 May;70(5):1357-62
references.pmid: 11920286
references.citation: Surg Neurol. 1998 Aug;50(2):164-8
references.pmid: 9701122
references.citation: Am J Hum Genet. 2001 Oct;69(4):704-11
references.pmid: 11536076
references.citation: Cytogenet Cell Genet. 1998;81(3-4):285-6
references.pmid: 9730621
references.citation: Mayo Clin Proc. 2011 Jun;86(6):489-92
references.pmid: 21628613
references.citation: Hum Mutat. 2005 Dec;26(6):513-9
references.pmid: 16287113
references.citation: J Med Genet. 1998 Jun;35(6):476-81
references.pmid: 9643289
references.citation: Lancet. 2004 Mar 13;363(9412):852-9
references.pmid: 15031030
references.citation: Mamm Genome. 1999 Mar;10(3):299-302
references.pmid: 10051328
references.citation: J Gastroenterol Hepatol. 2005 Nov;20(11):1634-40
references.pmid: 16246179
references.citation: Am J Hum Genet. 2006 Sep;79(3):593-6; author reply 596-7
references.pmid: 16909400
references.citation: Proc R Soc Med. 1964 Oct;57:896-7
references.pmid: 14214792
references.citation: Curr Gastroenterol Rep. 2009 Jun;11(3):211-9
references.pmid: 19463221
references.citation: Gut. 1984 Jul;25(7):792-800
references.pmid: 6735258