title: A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
abstract: Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifesting a relatively benign, lifelong, persistent hypercalcemia and hypocalciuria without hypercalcemic related complications. The calcium-sensing receptor (CaSR) plays an important role in the regulation of PTH secretion and calcium metabolism. Here we present a family with FBHH of an autosomal dominant inheritance. A heterozygous mutation of E297K (GAG --> AAG, exon 4) of CaSR gene was found in 3 family members. To our knowledge, it is the first confirmed case of FBHH with CaSR gene mutation in Korea.
authors.affiliation: Department of Endocrinology and Metabolism, Ajou University School of Medicine, 5 Wonchon-dong Yeongtong-gu, Suwon 443-721, Korea.
authors.forename: Seong Ill
authors.initials: SI
authors.lastname: Woo
authors.forename: Hyunju
authors.initials: H
authors.lastname: Song
authors.forename: Kyung Eun
authors.initials: KE
authors.lastname: Song
authors.forename: Dae Jung
authors.initials: DJ
authors.lastname: Kim
authors.forename: Kwan Woo
authors.initials: KW
authors.lastname: Lee
authors.forename: Se Joong
authors.initials: SJ
authors.lastname: Kim
authors.forename: Yoon-Sok
authors.initials: YS
authors.lastname: Chung
mesh_terms: D000328:Adult; D004247:DNA / Q000378:metabolism; D004262:DNA Restriction Enzymes / Q000378:metabolism; D005091:Exons; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics*; D007723:Korea; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D010281:Parathyroid Hormone / Q000031:analogs & derivatives / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D044169:Receptors, Calcium-Sensing / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C470125:PTH protein, human; D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing; D004247:DNA; D004262:DNA Restriction Enzymes