Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation.

ABSTRACT:

Objective

Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and inappropriately low PTH concentrations. ADH type 1 is caused by activating mutations in the calcium-sensing receptor (CASR), a G-protein-coupled receptor signaling through α11 (Gα11) and αq (Gαq) subunits. Heterozygous activating mutations in GNA11, the gene encoding Gα11, underlie ADH type 2. This study describes disease characteristics in a family with ADH caused by a gain-of-function mutation in GNA11.

Design

A three-generation family with seven members (3 adults, 4 children) presenting with ADH.

Methods

Biochemical parameters of calcium metabolism, clinical, genetic and brain imaging findings were analyzed.

Results

Sanger sequencing revealed a heterozygous GNA11 missense mu

SUBMITTER: Tenhola S 

PROVIDER: S-EPMC5149394 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature