Evidence for genetic heterogeneity in benign familial hematuria

Am J Nephrol. 1999;19(4):464-7. doi: 10.1159/000013499.


Benign familial hematuria (BFH: MIM141200) is an autosomal-dominant disease accounting for one-fifth of all hematuria of unknown cause in children. Previous observations suggest that BFH may be allelic to recessive Alport syndrome (AS: MIM 203780) with a mutation in the COL4A3/COL4A4 locus. However, it is not clear whether all cases of BFH are due to heterozygous mutation of COL4A3/COL4A4 genes. We report here the exclusion of linkage between BFH and COL4A3/COL4A4 loci at 2q35-37 in a restricted population from Sicily (Italy). Total lod score is -9.6 at theta 0. Furthermore, in some cases exclusion of linkage is evident even considering single families. We conclude that BFH is genetically heterogeneous.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Genes, Dominant
  • Genetic Heterogeneity*
  • Genetic Linkage
  • Genetic Markers
  • Hematuria / genetics*
  • Humans
  • Lod Score
  • Male
  • Nephritis, Hereditary / diagnosis
  • Pedigree
  • Sicily / epidemiology


  • Genetic Markers