title: Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.
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.
authors.affiliation: Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italia.
authors.forename: A
authors.initials: A
authors.lastname: Bolino
authors.forename: M
authors.initials: M
authors.lastname: Devoto
authors.forename: G
authors.initials: G
authors.lastname: Enia
authors.forename: C
authors.initials: C
authors.lastname: Zoccali
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: G
authors.initials: G
authors.lastname: Romeo
mesh_terms: D000328:Adult; D001483:Base Sequence; D002874:Chromosome Mapping; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics*; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
chemical_list: D005819:Genetic Markers