NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency.

ABSTRACT:

Context

Intronic DNA frequently encodes potential exonic sequences called pseudoexons. In recent years, mutations resulting in aberrant pseudoexon inclusion have been increasingly recognized to cause disease.

Objectives

To find the genetic cause of familial glucocorticoid deficiency (FGD) in two siblings.

Patients

The proband and his affected sibling, from nonconsanguineous parents of East Asian and South African origin, were diagnosed with FGD at the ages of 21 and 8 months, respectively.

Design

Whole exome sequencing was performed on genomic DNA (gDNA) of the siblings. Variants in genes known to cause FGD were assessed for causality. Further analysis of gDNA and cDNA was performed by PCR/RT-PCR followed by automated Sanger sequencing.

Results

Whole exo

SUBMITTER: Novoselova TV 

PROVIDER: S-EPMC4318891 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature