title: Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.
abstract: Autosomal dominant hypophosphatemic rickets (ADHR) is an inherited disorder of isolated renal phosphate wasting, the pathogenesis of which is unknown. We performed a genome-wide linkage study in a large kindred to determine the chromosome location of the ADHR gene. Two-point LOD scores indicate that the gene is linked to the markers D12S314 [Z(theta) = 3.15 at theta = 0.0], vWf [Z(theta) = 5.32 at theta = 0.0], and CD4 [Z(theta) = 3.53 at theta = 0.0]. Moreover, multilocus analysis indicates that the ADHR gene locus is located on chromosome 12p13 in the 18-cM interval between the flanking markers D12S100 and D12S397. These data are the first to establish a chromosomal location for the ADHR locus and to provide a framework map to further localize the gene. Such studies will permit ultimate identification of the ADHR gene and provide further insight into phosphate homeostasis.
authors.affiliation: Department of Medicine, Duke University Medical Center and the Durham Veterans Affairs Medical Center, Durham, North Carolina 27710, USA. mecons@iupiu.edu
authors.forename: M J
authors.initials: MJ
authors.lastname: Econs
authors.forename: P T
authors.initials: PT
authors.lastname: McEnery
authors.forename: F
authors.initials: F
authors.lastname: Lennon
authors.forename: M C
authors.initials: MC
authors.lastname: Speer
mesh_terms: D002881:Chromosomes, Human, Pair 12; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree