Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13

Michael J. Econs, Paul T. McEnery, Felicia Lennon, Marcy C. Speer

Research output: Contribution to journalArticlepeer-review

87 Scopus citations

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(Θ)= 3.15 at Θ = 0.0], vWf [z(Θ) = 5.32 at Θ = 0.0], and CD4 [Z(Θ) = 3.53 at Θ = 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.

Original languageEnglish (US)
Pages (from-to)2653-2657
Number of pages5
JournalJournal of Clinical Investigation
Volume100
Issue number11
DOIs
StatePublished - Dec 1 1997

Keywords

  • Chromosome 12
  • Hypophosphatemia
  • Osteomalacia
  • Phosphate
  • Rickets

ASJC Scopus subject areas

  • Medicine(all)

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