Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1996-8-13
pubmed:abstractText
Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We have undertaken studies to characterize such CaR mutations in FBH and NHPT and to explore methods for their more rapid detection. Nine unrelated kindreds (39 affected, 32 unaffected members) with FBH and three unrelated children with sporadic NHPT were investigated for mutations in the 3,234-bp coding region of the CaR gene by DNA sequencing. Six novel heterozygous (one nonsense and five missense) mutations were identified in six of the nine FBH kindreds, and two de novo heterozygous missense mutations and one homozygous frame-shift mutation were identified in the three children with NHPT. Our results expand the phenotypes associated with CaR mutations to include sporadic NHPT. Single-stranded conformational polymorphism analysis was found to be a sensitive and specific mutational screening method that detected > 85% of these CaR gene mutations. The single-stranded conformational polymorphism identification of CaR mutations may help in the distinction of FBH from mild primary hyperparathyroidism which can be clinically difficult. Thus, the results of our study will help to supplement the clinical evaluation of some hypercalcemic patients and to elucidate further the structure-function relationships of the CaR.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-1302009, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-1302026, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-1524075, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-1973175, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-2167460, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-2442619, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-2595723, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-2673770, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-2889790, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-3612401, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-3977197, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-6113439, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-6430604, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-6468429, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-7054696, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-7311809, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-7356229, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-7635467, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-7717399, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-7726161, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-7759551, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-7816802, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-7874174, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-7916660, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-7955463, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-8099916, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-8132750, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-8215575, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-8252035, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-8255296, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-830920, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-8317484, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-8349824, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-8385357, http://linkedlifedata.com/resource/pubmed/commentcorrection/8675635-8514889
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0021-9738
pubmed:author
pubmed:issnType
Print
pubmed:volume
96
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
2683-92
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed-meshheading:8675635-Amino Acid Sequence, pubmed-meshheading:8675635-Base Sequence, pubmed-meshheading:8675635-Calcium, pubmed-meshheading:8675635-Child, pubmed-meshheading:8675635-DNA Primers, pubmed-meshheading:8675635-Female, pubmed-meshheading:8675635-Genes, Tumor Suppressor, pubmed-meshheading:8675635-Heterozygote Detection, pubmed-meshheading:8675635-Humans, pubmed-meshheading:8675635-Hypercalcemia, pubmed-meshheading:8675635-Hyperparathyroidism, pubmed-meshheading:8675635-Infant, Newborn, pubmed-meshheading:8675635-Male, pubmed-meshheading:8675635-Molecular Sequence Data, pubmed-meshheading:8675635-Mutation, pubmed-meshheading:8675635-Parathyroid Glands, pubmed-meshheading:8675635-Pedigree, pubmed-meshheading:8675635-Point Mutation, pubmed-meshheading:8675635-Polymerase Chain Reaction, pubmed-meshheading:8675635-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:8675635-Receptors, Calcium-Sensing, pubmed-meshheading:8675635-Receptors, Cell Surface, pubmed-meshheading:8675635-Reference Values, pubmed-meshheading:8675635-Restriction Mapping
pubmed:year
1995
pubmed:articleTitle
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
pubmed:affiliation
MRC Molecular Endocrinology Group, Royal Postgraduate Medical School, London, United Kingdom.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't