Evidence for genetic heterogeneity in benign familial hematuria

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

Research output: Contribution to journalArticle

43 Citations (Scopus)

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 languageEnglish
Pages (from-to)464-467
Number of pages4
JournalAmerican Journal of Nephrology
Volume19
Issue number4
DOIs
Publication statusPublished - Jul 1999

Fingerprint

Genetic Heterogeneity
Sicily
Naphazoline
Lod Score
Mutation
Hematuria
Italy
Population
Genes
Benign Familial Hematuria
Recessive type Alport syndrome

Keywords

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

ASJC Scopus subject areas

  • Nephrology

Cite this

Piccini, M., Casari, G., Zhou, J., Bruttini, M., Li Volti, S., Ballabio, A., & Renieri, A. (1999). Evidence for genetic heterogeneity in benign familial hematuria. American Journal of Nephrology, 19(4), 464-467. https://doi.org/10.1159/000013499

Evidence for genetic heterogeneity in benign familial hematuria. / Piccini, Monica; Casari, Giorgio; Zhou, Janhua; Bruttini, Mirella; Li Volti, Salvatore; Ballabio, Andrea; Renieri, Alessandra.

In: American Journal of Nephrology, Vol. 19, No. 4, 07.1999, p. 464-467.

Research output: Contribution to journalArticle

Piccini, M, Casari, G, Zhou, J, Bruttini, M, Li Volti, S, Ballabio, A & Renieri, A 1999, 'Evidence for genetic heterogeneity in benign familial hematuria', American Journal of Nephrology, vol. 19, no. 4, pp. 464-467. https://doi.org/10.1159/000013499
Piccini, Monica ; Casari, Giorgio ; Zhou, Janhua ; Bruttini, Mirella ; Li Volti, Salvatore ; Ballabio, Andrea ; Renieri, Alessandra. / Evidence for genetic heterogeneity in benign familial hematuria. In: American Journal of Nephrology. 1999 ; Vol. 19, No. 4. pp. 464-467.
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