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
European Journal of Human Genetics , 1(4),269--279 (1993)
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.
