Codon Arg15 Mutations of the<i>AP2S1</i>Gene: Common Occurrence in Familial Hypocalciuric Hypercalcemia Cases Negative for Calcium-Sensing Receptor (<i>CASR</i>) Mutations

Abstract excerpt

CONTEXT: Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder with three known subtypes: FHH1, FHH2, and FHH3. About 65% of FHH cases are FHH1, caused by inactivating mutations of the calcium-sensing receptor (CASR) gene. FHH3 was recently found to be caused by codon Arg15 (p.R15) mutations in the adaptor-related protein complex 2, σ-2 subunit that interacts with the CaSR and is encoded by...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Bone health and treatments
• Share to Magnesium in Health and Disease
• Share to Parathyroid Disorders and Treatments