Evidence for genetic heterogeneity in benign familial hematuria

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

doi:10.1159/000013499

Evidence for genetic heterogeneity in benign familial hematuria

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

IRCCS Ospedale San Raffaele

Research output: Contribution to journal › Article › peer-review

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
Pages (from-to)	464-467
Number of pages	4
Journal	American Journal of Nephrology
Volume	19
Issue number	4
DOIs	https://doi.org/10.1159/000013499
Publication status	Published - Jul 1999

Keywords

Alport syndrome
Benign familial hematuria
COL4A3 and COL4A4
Genetic heterogeneity

ASJC Scopus subject areas

Nephrology

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title = "Evidence for genetic heterogeneity in benign familial hematuria",

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.",

keywords = "Alport syndrome, Benign familial hematuria, COL4A3 and COL4A4, Genetic heterogeneity",

author = "Monica Piccini and Giorgio Casari and Janhua Zhou and Mirella Bruttini and {Li Volti}, Salvatore and Andrea Ballabio and Alessandra Renieri",

year = "1999",

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T1 - Evidence for genetic heterogeneity in benign familial hematuria

AU - Piccini, Monica

AU - Casari, Giorgio

AU - Zhou, Janhua

AU - Bruttini, Mirella

AU - Li Volti, Salvatore

AU - Ballabio, Andrea

AU - Renieri, Alessandra

PY - 1999/7

Y1 - 1999/7

N2 - 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.

AB - 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.

KW - Alport syndrome

KW - Benign familial hematuria

KW - COL4A3 and COL4A4

KW - Genetic heterogeneity

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