Mutations in the Human Ca{sup 2+}-sensing-receptor gene that cause familial hypocalciuric hypercalcemia

Journal Article · Mon May 01 04:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:75447

Chou, Yah-Huei Wu ^[1]; Pollak, M R; Brown, E M; Seidman, J G; Seidman, C E ^[2]; Brandi, M L ^[3]; Toss, G; Arnqvist, H ^[4]

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1. Chang Gung Memorial Hospital, Taoyuan (Taiwan, Province of China)
2. Harvard Univ., Boston, MA (United States)
3. Univ. Florence (Italy)
4. Linkoping Univ. (Sweden)

We report five novel mutations in the human Ca{sup 2+}-sensing-receptor gene that cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism. Each gene defect is a missense mutation that encodes a nonconservative amino acid alteration. These mutations are each predicted to be in the Ca{sup 2+}-sensing receptor`s large extracellular domain. In three families with FHH linked to the Ca{sup 2+}-sensing-receptor gene on chromosome 3 and in unrelated individuals probands with FHH, mutations were not detected in protein-coding sequences. On the basis of these data and previous analyses, we suggest that there are a wide range of mutations that cause FHH. Mutations that perturb the structure and function of the extracellular or transmembrane domains of the receptor and those that affect noncoding sequences of the Ca{sup 2+}-sensing-receptor gene can cause FHH. 23 refs., 2 figs., 1 tab.

• OSTI ID: 75447
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 5 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACID SEQUENCE
CALCIUM
GENE AMPLIFICATION
GENE MUTATIONS
GENES
HEREDITARY DISEASES
HUMAN CHROMOSOME 3
PARATHYROID GLANDS
POLYMERASE CHAIN REACTION
STRUCTURE-ACTIVITY RELATIONSHIPS