title: Maternal activating mutation of the calcium-sensing receptor: implications for calcium metabolism in the neonate.
abstract: Two infants were studied born of a mother with autosomal dominant hypocalcemia who is heterozygous for an activating mutation in the calcium-sensing receptor gene. Both infants had serum calcium levels in the low-normal range and parathyroid hormone levels in the high-normal range and were healthy. The mother's hypocalcemia had been treated with calcium carbonate and calcitriol and she has nephrocalcinosis and mild renal insufficiency. By genetic testing, both infants were shown to have normal calcium-sensing receptor gene alleles, i.e., they had not inherited the activating mutation from their mother. This provided reassurance to the family and ensured that treatment to correct apparent hypocalcemia would not be necessary. The fact that the infants had high normal parathyroid hormone levels with normal calcium may be due to the fact that with a normal calcium-sensing receptor their parathyroid glands responded in utero to the maternal hypocalcemia with an increase in parathyroid hormone.
authors.affiliation: Division of Endocrinology, Children's Hospital, Harvard Medical School, Boston, MA, USA.
authors.forename: Yanira L
authors.initials: YL
authors.lastname: Pagan
authors.forename: Joel
authors.initials: J
authors.lastname: Hirschhorn
authors.forename: Bing
authors.initials: B
authors.lastname: Yang
authors.forename: Lilia
authors.initials: L
authors.lastname: D'Souza-Li
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Majzoub
authors.forename: Geoffrey N
authors.initials: GN
authors.lastname: Hendy
mesh_terms: D000483:Alleles; D002118:Calcium / Q000097:blood; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D006996:Hypocalcemia / Q000209:etiology*; D007231:Infant, Newborn / Q000097:blood / Q000502:physiology*; D009154:Mutation; D010281:Parathyroid Hormone / Q000097:blood; D011247:Pregnancy / Q000235:genetics*; D044169:Receptors, Calcium-Sensing / Q000235:genetics*
chemical_list: D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing; D002118:Calcium