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Hypercalcemia-associated AP2sigma mutations reduced calcium-sensing receptor (CaSR) signaling via Galphaq/11 and Galphai/o pathways. The mutations also delayed CaSR internalization due to prolonged residency time of CaSR in clathrin structures that impaired or abolished endosomal signaling.
CaSR and AP2S1 sequencing is worthwhile in patients with familial hyperparathyroidism and phenotype suggesting familial hypocalciuric hypercalcemia as it can diagnose up to 50% of cases.
In 33 CASR-negative patients with suspected FHH, Data found two (~6%) with a mutation in AP2S1 (p.Arg15Leu and p.Arg15His). Family screening confirmed the genotype-phenotype correlations. Data did not identify any pathogenic mutations in GNA11.
our studies demonstrate AP2sigma2 mutations to result in a more severe FHH phenotype with genotype-phenotype correlations, and a dominant-negative mechanism of action with mutational bias at the Arg15 residue.
The results affirm that a significant number of patients suspected of having Familial hypocalciuric hypercalcemia but proven negative for CASR mutation have AP2S1 p.R15 mutations.
The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that autosomal dominant hypocalcemia 3 (ADH3) may not occur or otherwise represents a rare hypocalcemic disorder.
None of the 60 patients presented with nucleotidic changes or copy number variation in the AP2S1 gene, thereby excluding AP2S1 defects as a frequent cause of isolated hypoparathyroidism.
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing has been observed in this gene and results in two known transcripts.
adaptor-related protein complex 2, sigma 1 subunit
, AP-2 complex subunit sigma
, AP-2 complex subunit sigma isoform AP17
, sigma adaptin
, HA2 17 kDa subunit
, adaptor protein complex AP-2 subunit sigma
, clathrin assembly protein 2 small chain
, clathrin coat assembly protein AP17
, clathrin coat-associated protein AP17
, clathrin-associated/assembly/adaptor protein, small 2 (17kD)
, plasma membrane adaptor AP-2 17 kDa protein
, adapter-related protein complex 2 sigma subunit
, sigma-adaptin 3b
, clathrin-associated protein 17
, AP-2 complex subunit sigma-1