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The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families

Nature Genetics volume 1, pages 295–300 (1992)Cite this article

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.

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Authors and Affiliations

  1. Howard Hughes Medical Institute and Department of Genetics, Harvard Medical School, Boston, Massachusetts, 02115, USA

    Yah-Huei Wu Chou, Tatyana Levi & J. G. Seidman

  2. Endocrinology-Hypertension Division, Brigham and Women's Hospital, Boston, Massachusetts, 02115, USA

    Edward M. Brown & Ghada El-Hajj Fuleihan

  3. Sir George E. Clark Metabolic Unit, Royal Victoria Hospital, Belfast, Northern Ireland

    Gail Crowe & A. Brew Atkinson

  4. Department of Internal Medicine, Linkoping University, Linkoping, S-581 85, Sweden

    Hans J. Arnqvist & Goran Toss

  5. Cardiology Division, Brigham and Women's Hospital, Boston, Massachusetts, 02115, USA

    Christine E. Seidman

Authors
  1. Yah-Huei Wu Chou
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  2. Edward M. Brown
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  3. Tatyana Levi
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  4. Gail Crowe
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Chou, YH., Brown, E., Levi, T. et al. The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. Nat Genet 1, 295–300 (1992). https://doi.org/10.1038/ng0792-295

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  • DOI: https://doi.org/10.1038/ng0792-295

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