title: A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.
abstract: Missense mutations in the calcium-sensing receptor (CaSR) gene have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism. We identified a newborn with hypercalcemia in our hospital by mass screening. The family members were studied, and we found a novel CaSR missense mutation with polymerase chain reaction single-strand conformational polymorphism analysis. The mother, grandmother, and aunt of the baby all had FHH. A heterozygous missense mutation in exon 6 that substitutes a glutamic acid for the glycine at codon 557 (Gly557Glu), which corresponds to the extracellular domain of CaSR, was identified and shown to cosegregate with the disease. Identification of the mutation responsible for the FHH phenotype in this family may facilitate rapid testing of individuals at risk for FHH.
authors.affiliation: Division of Receptor Biology, Advanced Medical Research Center, Nihon University School of Medicine, Tokyo, Japan. tnakayam@med.nihon-u.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Nakayama
authors.forename: M
authors.initials: M
authors.lastname: Minato
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: M
authors.initials: M
authors.lastname: Soma
authors.forename: H
authors.initials: H
authors.lastname: Tobe
authors.forename: N
authors.initials: N
authors.lastname: Aoi
authors.forename: K
authors.initials: K
authors.lastname: Kosuge
authors.forename: M
authors.initials: M
authors.lastname: Sato
authors.forename: Y
authors.initials: Y
authors.lastname: Ozawa
authors.forename: K
authors.initials: K
authors.lastname: Kanmatsuse
authors.forename: S
authors.initials: S
authors.lastname: Kokubun
mesh_terms: D000328:Adult; D005091:Exons / Q000235:genetics; D006801:Humans; D006934:Hypercalcemia / Q000097:blood / Q000235:genetics* / Q000652:urine; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface