Abstract
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 language | English |
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Pages (from-to) | 464-467 |
Number of pages | 4 |
Journal | American Journal of Nephrology |
Volume | 19 |
Issue number | 4 |
DOIs | |
Publication status | Published - Jul 1999 |
Keywords
- Alport syndrome
- Benign familial hematuria
- COL4A3 and COL4A4
- Genetic heterogeneity
ASJC Scopus subject areas
- Nephrology