Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor.
Familial hypocalciuric hypercalcemia (FHH) is known to be caused by heterozygous inactivating mutations of the calcium sensing receptor (CaSR) gene. We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.
Jack
Michelle M
MM
Department of Endocrinology, Royal North Shore Hospital, St Leonards, NSW, Australia. mmjack@med.usyd.edu.au
Stone
Monique L
ML
Clifton-Bligh
Roderick
R
D002118:Calcium / Q000097:blood; D004252:DNA Mutational Analysis; D006801:Humans; D006934:Hypercalcemia / Q000097:blood / Q000235:genetics*; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D044169:Receptors, Calcium-Sensing / Q000235:genetics*; D012016:Reference Values
C095550:CASR protein, human; D044169:Receptors, Calcium-Sensing; D002118:Calcium