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BMPR1A

MIM.601299 10q22.3 HGNC:1076

Tuesday 18 November 2003

Pathology

- germline mutations in

  • Cowden disease (MIM.158350) and Cowden-like syndrome (#11536076#)
    • BMPR1A-associated Cowden-like syndrome
  • juvenile polyposis (MIM.174900)
    • BMPR1A-associated juvenile polyposis
  • hereditary mixed polyposis syndrome-2 (HMPS2)
    • BMPR1A-associated hereditary mixed polyposis syndrome

Immunochemistry

- BMPRIA immunohistochemistry may be a promising new tool for the identification of enteric ganglion cells in the evaluation of patients with neurointestinal disorders. (#16226113#)

References

- Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. van Hattem WA, Brosens LA, de Leng WW, Morsink FH, Lens S, Carvalho R, Giardiello FM, Offerhaus GJ. Gut. 2008 May;57(5):623-7. PMID: #18178612#

- BMPRIA is a promising marker for evaluating ganglion cells in the enteric nervous system—a pilot study. Brewer KC, Mwizerva O, Goldstein AM. Hum Pathol. 2005 Oct;36(10):1120-6. PMID: #16226113#

- Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. Cao, X.; Eu, K. W.; Kumarasinghe, M. P.; Li, H. H.; Loi, C.; Cheah, P. Y. : J. Med. Genet. 43: e13, 2006. PubMed ID : #16525031#

- Vessels’ morphology in SMAD4 and BMPR1A-related juvenile polyposis. Handra-Luca A, Condroyer C, de Moncuit C, Tepper M, Fléjou JF, Thomas G, Olschwang S. Am J Med Genet A. 2005 Oct 1;138A(2):113-7. PMID: #16152648#

- Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Järvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C. Am J Hum Genet. 2001 Oct;69(4):704-11. PMID: #11536076#

Portfolio

  • Juvenile polyps in juvenile polyposis