Endocrine Abstracts

Objective: To describe a novel mutation of the calcium sensing receptor gene (CaSR) in a family diagnosed with familial hypocalciuric hypercalcemia (FHH).Case history: A 62 year old man being investigated for short term memory loss was referred to us by GP for hypercalcemia found on routine blood tests. He was asymptomatic otherwise. Repeat blood tests revealed serum calcium high at 2.88 mmol/l, inorganic phosphate of 0.75 mmol/l, and normal serum PTH of...

GCMB, which is the mammalian homologue of the Drosophila gene Glial cells missing, encodes a 506 amino acid parathyroid-specific transcription factor that contains: a GCM DNA-binding domain at residues 19–176; a predicted nuclear localization signal (NLS) at residues 176–193; an inhibitory domain at residues 258–347; and two transactivation domains at residues 174–263, and residues 428–506. To date only six different GCMB mu...

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder of mineral metabolism that is characterized by lifelong elevation of serum calcium concentrations associated with inappropriately low urinary calcium excretion (calcium clearance:creatinine clearance <0.01). Three separate FHH loci have been identified (FHH1-3). Loss-of-function mutations of the calcium-sensing receptor (CaSR) gene located on 3q21.1, which account for the majority of FHH c...