Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion.

ABSTRACT:

Background

Point mutations of the PRKAR1A gene are a genetic cause of Carney complex (CNC) and primary pigmented nodular adrenocortical disease (PPNAD), but in 30% of the patients no mutation is detected.

Objective

Set up a routine-based technique for systematic detection of large deletions or duplications of this gene and functionally characterize these mutations.

Methods

Multiplex ligation-dependent probe amplification (MLPA) of the 12 exons of the PRKAR1A gene was validated and used to detect large rearrangements in 13 typical CNC and 39 confirmed or putative PPNAD without any mutations of the gene. An in-frame deletion was characterized by western blot and bioluminescence resonant energy transfer technique for its interaction with the catalytic subunit.

Results

SUBMITTER: Bataille MG 

PROVIDER: S-EPMC4733623 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature