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.
authors.affiliation: Genetica Medica, Policlinico Le Scotte, Siena, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Piccini
authors.forename: G
authors.initials: G
authors.lastname: Casari
authors.forename: J
authors.initials: J
authors.lastname: Zhou
authors.forename: M
authors.initials: M
authors.lastname: Bruttini
authors.forename: S L
authors.initials: SL
authors.lastname: Volti
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: A
authors.initials: A
authors.lastname: Renieri
mesh_terms: D000328:Adult; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005819:Genetic Markers; D006417:Hematuria / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D009394:Nephritis, Hereditary / Q000175:diagnosis; D010375:Pedigree; D012802:Sicily / Q000453:epidemiology
chemical_list: D005819:Genetic Markers