A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
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.
Woo
Seong Ill
SI
Department of Endocrinology and Metabolism, Ajou University School of Medicine, 5 Wonchon-dong Yeongtong-gu, Suwon 443-721, Korea.
Song
Hyunju
H
Song
Kyung Eun
KE
Kim
Dae Jung
DJ
Lee
Kwan Woo
KW
Kim
Se Joong
SJ
Chung
Yoon-Sok
YS
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
C470125:PTH protein, human; D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing; D004247:DNA; D004262:DNA Restriction Enzymes