Article
Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics.
BMC nephrology - 8 Sept 2013
Vazifehmand Reza, Rossetti Sandro, Saber Sassan, Khorshid Hamid Reza Khorram, Harris Peter C
Abstract excerpt
BACKGROUND: Polycystic kidney diseases (PKD) are a group of monogenic disorders that are inherited dominantly (autosomal dominant PKD; ADPKD) or recessively, including, autosomal recessive PKD (ARPKD). A number of recessive, syndromic disorders also involve PKD but have a range of pleiotropic phenotypes beyond the kidney, and are enriched in consanguineous families. CASE PRESENTATION: We describe here a...
Topics
- Adult
- Aged
- Consanguinity
- Female
- Genetic Markers
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Iran
- Male
- Middle Aged
- Molecular Diagnostic Techniques
- Mutation
- Pedigree
- Polycystic Kidney Diseases