title: The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families.
abstract: Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant syndrome of unknown aetiology characterized by lifelong elevation in serum calcium concentration and low urinary calcium excretion. These features suggest that the causal gene is important for maintenance of extracellular calcium homeostasis by the parathyroid gland and kidney. To identify the chromosomal location of FHH gene(s), we clinically evaluated 114 individuals in four unrelated affected families and performed linkage analyses. The disease gene mapped to the long arm of chromosome 3 in each family (combined maximum multipoint lod score = 20.67). We suggest that this is the predominant FHH locus and anticipate that identification of the FHH gene will improve our understanding of the molecular basis for physiologic and pathologic regulation of calcium.
authors.affiliation: Howard Hughes Medical Institute, Boston, Massachusetts.
authors.forename: Y H
authors.initials: YH
authors.lastname: Chou
authors.forename: E M
authors.initials: EM
authors.lastname: Brown
authors.forename: T
authors.initials: T
authors.lastname: Levi
authors.forename: G
authors.initials: G
authors.lastname: Crowe
authors.forename: A B
authors.initials: AB
authors.lastname: Atkinson
authors.forename: H J
authors.initials: HJ
authors.lastname: Arnqvist
authors.forename: G
authors.initials: G
authors.lastname: Toss
authors.forename: G E
authors.initials: GE
authors.lastname: Fuleihan
authors.forename: J G
authors.initials: JG
authors.lastname: Seidman
authors.forename: C E
authors.initials: CE
authors.lastname: Seidman
mesh_terms: D001483:Base Sequence; D002118:Calcium / Q000097:blood / Q000378:metabolism* / Q000652:urine; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D008664:Metal Metabolism, Inborn Errors / Q000235:genetics*; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic
chemical_list: D015342:DNA Probes; D009838:Oligodeoxyribonucleotides; D004247:DNA; D002118:Calcium