Hyperuricemic Nephropathy, Familial Juvenile, 3

For a general phenotypic description and a discussion of genetic heterogeneity of familial juvenile hyperuricemic nephropathy (HNFJ), see 162000.

Mapping

Piret et al. (2011) performed SNP-based genomewide linkage analysis in 6 multiplex families with familial juvenile hyperuricemic nephropathy, including 3 previously studied by Williams et al. (2009) and 2 previously studied by Stacey et al. (2003), in which mutations in UMOD (191845), REN (179820), and HNF1B (189907) had been excluded. Parametric linkage analysis using a 'rare dominant' model established linkage in 5 of the 6 HNFJ families, with a lod score greater than 3 (theta = 0) at chromosome 2p22.1-p21. Recombination events in 2 unrelated affected individuals defined an approximately 5.5-Mb disease interval, flanked by rs372139 and rs896986, a locus that the authors designated FJHN3.

Molecular Genetics

Piret et al. (2011) analyzed function and expression patterns of 28 genes contained in the HNFJ3 interval on chromosome 2p22.1-p21; sequence analysis of the most likely candidate, SLC8A1 (182305), in probands from 5 families with HNFJ mapping to that region did not reveal any mutations.