Juvenile Polyposis Syndrome and SMAD4  

Mutations in the SMAD4 gene have been found in patients with Juvenile Polyposis Syndrome (JPS) (~20 percent), patients with combined Juvenile Polyposis/ Hereditary Hemorrhagic Telangiectasia (JP/HHT) (100 percent, based on small numbers) or patients with HHT, but without reported symptoms of JPS (2-3 percent, based on small numbers).

The purpose of this database is to document all known SMAD4 mutations or gene variants including sequence based changes and large deletion/duplications that have been linked to JPS, JP/HHT or HHT, as well as any available associated clinical information or significant literature related to the disorder. The Genbank sequences NC_000018.9, NM_005359.5, and NP_005350.1 were used as reference sequences.

ARUP Laboratories offers the following testing:
  • Deletion Duplication (test 2001976)
  • Sequencing (test 0051510)
  • Sequencing and Deletion/Duplication (test 2001971)

Database Information

The SMAD4 database currently has 88 total entries.

Citations

When citing in publications please use:

Wooderchak WL, Spencer Z, Crockett DK, McDonald J, Bayrak-Toydemir P. Repository of SMAD4 Mutations: Reference for Genotype/Phenotype Correlation. J Data Mining in Genom Proteomics 2010. 1:101 doi:10.4172/2155-0602.1000101.

Database URL:

http://www.arup.utah.edu/database/SMAD4/SMAD4_welcome.php