Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.

ABSTRACT: Adrenal insufficiency is a rare, but potentially fatal medical condition. In children, the cause is most commonly congenital and in recent years a growing number of causative gene mutations have been identified resulting in a myriad of syndromes that share adrenal insufficiency as one of the main characteristics. The evolution of adrenal insufficiency is dependent on the variant and the particular gene affected, meaning that rapid and accurate diagnosis is imperative for effective treatment of the patient. Common practice is for candidate genes to be sequenced individually, which is a time-consuming process and complicated by overlapping clinical phenotypes. However, with the availability, and increasing cost effectiveness of whole-exome sequencing, there is the potential for this to becom

SUBMITTER: Chan LF 

PROVIDER: S-EPMC4525066 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature