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 | |
| Publication status | Published - Jul 1999 |
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Keywords
- Alport syndrome
- Benign familial hematuria
- COL4A3 and COL4A4
- Genetic heterogeneity
ASJC Scopus subject areas
- Nephrology
Cite this
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 journal › Article
}
TY - JOUR
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
UR - http://www.scopus.com/inward/record.url?scp=0032799090&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0032799090&partnerID=8YFLogxK
U2 - 10.1159/000013499
DO - 10.1159/000013499
M3 - Article
VL - 19
SP - 464
EP - 467
JO - American Journal of Nephrology
JF - American Journal of Nephrology
SN - 0250-8095
IS - 4
ER -