CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.

ABSTRACT:

Background

Cav1.3 voltage-gated L-type calcium channels (LTCCs) are part of postsynaptic neuronal signaling networks. They play a key role in brain function, including fear memory and emotional and drug-taking behaviors. A whole-exome sequencing study identified a de novo mutation, p.A749G, in Cav1.3 α1-subunits (CACNA1D), the second main LTCC in the brain, as 1 of 62 high risk-conferring mutations in a cohort of patients with autism and intellectual disability. We screened all published genetic information available from whole-exome sequencing studies and identified a second de novo CACNA1D mutation, p.G407R. Both mutations are present only in the probands and not in their unaffected parents or siblings.

Methods

We functionally expressed both mutations in tsA-201 cells to s

SUBMITTER: Pinggera A 

PROVIDER: S-EPMC4401440 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature