Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

ABSTRACT:

Context

Autosomal dominant hypocalcemia (ADH) types 1 and 2 are due to calcium-sensing receptor (CASR) and G-protein subunit-α11 (GNA11) gain-of-function mutations, respectively, whereas CASR and GNA11 loss-of-function mutations result in familial hypocalciuric hypercalcemia (FHH) types 1 and 2, respectively. Loss-of-function mutations of adaptor protein-2 sigma subunit (AP2σ 2), encoded by AP2S1, cause FHH3, and we therefore sought for gain-of-function AP2S1 mutations that may cause an additional form of ADH, which we designated ADH3.

Objective

The objective of the study was to investigate the hypothesis that gain-of-function AP2S1 mutations may cause ADH3.

Design

The sample size required for the detection of at least one mutation with a greater than 95% likelihood w

SUBMITTER: Rogers A 

PROVIDER: S-EPMC4447854 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature