Evidence for genetic heterogeneity in benign familial hematuria

Monica Piccini, Giorgio Casari, Janhua Zhou, Mirella Bruttini, Salvatore Li Volti, Andrea Ballabio, Alessandra Renieri

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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.

Original languageEnglish
Pages (from-to)464-467
Number of pages4
JournalAmerican Journal of Nephrology
Issue number4
Publication statusPublished - Jul 1999


  • Alport syndrome
  • Benign familial hematuria
  • COL4A3 and COL4A4
  • Genetic heterogeneity

ASJC Scopus subject areas

  • Nephrology


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