Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.

A. Bolino, M. Devoto, G. Enia, C. Zoccali, J. Weissenbach, G. Romeo

Research output: Contribution to journalArticlepeer-review

Abstract

Human X-linked dominant hypophosphatemic rickets (HPDR I) is characterized by hypophosphatemia, hyperphosphaturia, abnormal vitamin D metabolism, and rickets/osteomalacia. Two closely linked hypophosphatemic genes, hypophosphatemia (Hyp) and Gyro (Gy), are known on the mouse X chromosome. The Hyp phenotype is the equivalent of the human X-linked hypophosphatemia, while the human equivalent of the Gyro mouse has not been unambiguously identified. We observed an Italian four-generation pedigree with a new form of X-linked recessive hypophosphatemic rickets (XLRH). We demonstrated that HPDR I and XLRH are two different X-linked genes and that XLRH maps in the Xp11.2 region at 0% recombination fraction from the DXS1039 locus. We discuss this new finding in relation to the identification of the human equivalent of the Gyro mouse and to the recent mapping in Xp11.22 of another X-linked recessive renal disorder named Dent disease.

Original languageEnglish
Pages (from-to)269-279
Number of pages11
JournalEuropean Journal of Human Genetics
Volume1
Issue number4
Publication statusPublished - 1993

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.'. Together they form a unique fingerprint.

Cite this