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    "description": "Abstract Isolated autosomal dominant hypoparathyroidism is a heterogeneous disorder characterized by parathyroid hormone (PTH) deficiency, hypocalcemia and hyperphosphatemia. The candidate gene approach was used to study a large Norwegian family. The loci for the PTH gene, PTH receptor gene and RET protooncogene were excluded using dinucleotide markers and restriction fragment length polymorphism analysis. Complete cosegregation of this trait was found with the chromosomal region 3q13, using the short tandem repeat markers D3S1267, D3S1269, D3S1303, D3S1518, and RHO. This region contains the candidate locus for the Ca2+-sensing receptor (PCAR1). By single-strand conformation polymorphism (SSCP) analysis of all PCAR1 exons followed by automated sequencing, we identified a C to T transition in exon 2 (cDNA position 452) on the mutant allele in the family. The mutation predicts a substitution of Thr to Met in amino acid position 151 (T151M). A StyI restriction site created by the nucleotide substitution was used to confirm the mutation on all alleles, as well as to exclude it among 100 normal alleles (blood donors). SSCP analysis also identified a novel polymorphism of PCAR1 intron 4 (1609\u201388t\u2192c) on normal alleles.The T151M mutation is located in the extracellular N-terminal domain of PCAR1, which belongs to the superfamily of G protein-coupled receptors. We suggest that this is a gain-of-function mutation that increases the sensitivity of the receptor to [Ca2+], thereby decreasing the calcium set point.", 
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      "calcium set point", 
      "protein-coupled receptors", 
      "hormone deficiency", 
      "amino acid position 151", 
      "heterogeneous disorder", 
      "single-strand conformation polymorphism analysis", 
      "M mutation", 
      "polymorphism analysis", 
      "RET protooncogene", 
      "normal allele", 
      "receptor gene", 
      "conformation polymorphism analysis", 
      "dinucleotide markers", 
      "hypoparathyroidism", 
      "PTH gene", 
      "receptors", 
      "restriction fragment length polymorphism analysis", 
      "candidate gene approach", 
      "fragment length polymorphism analysis", 
      "novel polymorphisms", 
      "function mutations", 
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      "substitution of Thr", 
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      "large Norwegian family", 
      "exon 2", 
      "gene approach", 
      "alleles", 
      "position 151", 
      "Ca2", 
      "PTH receptor gene", 
      "mutations", 
      "hypocalcemia", 
      "hyperphosphatemia", 
      "SSCP analysis", 
      "candidate loci", 
      "disorders", 
      "mutant alleles", 
      "MetS", 
      "markers", 
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      "protooncogene", 
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      "complete cosegregation", 
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      "pCAR1", 
      "transition", 
      "Abstract Isolated autosomal dominant hypoparathyroidism", 
      "Isolated autosomal dominant hypoparathyroidism", 
      "dominant hypoparathyroidism", 
      "chromosomal region 3q13", 
      "region 3q13", 
      "short tandem repeat markers D3S1267", 
      "tandem repeat markers D3S1267", 
      "repeat markers D3S1267", 
      "D3S1303", 
      "D3S1518", 
      "PCAR1 exons", 
      "acid position 151", 
      "PCAR1 intron 4", 
      "T151M mutation", 
      "receptor gene (PCAR1) mutation T151M", 
      "gene (PCAR1) mutation T151M", 
      "mutation T151M", 
      "T151M"
    ], 
    "name": "The Ca2+-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism", 
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