Article
A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
The Journal of clinical endocrinology and metabolism - 1 Nov 2009
Lietman Steven A, Tenenbaum-Rakover Yardena, Jap Tjin Shing, Yi-Chi Wu, De-Ming Yang, Ding Changlin, Kussiny Najat, Levine Michael A
Abstract excerpt
CONTEXT: Mutations that inactivate one allele of the gene encoding the calcium sensing receptor (CaSR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas homozygous mutations cause neonatal severe hyperparathyroidism. OBJECTIVE: We describe the identification and biochemical characterization of a novel CASR gene mutation that caused apparent autosomal recessive FHH in an extended...
Topics
- Amino Acid Substitution
- Arginine
- Calcium
- Cell Line
- Child, Preschool
- Chromosome Disorders
- Exons
- Female
- Gene Silencing
- Genes, Recessive
- Glutamine
- Heterozygote
- Humans