Candidate modifier genes for immune function in 22q11.2 deletion syndrome.

ABSTRACT:

Background

The 22q11.2 deletion syndrome (22q11.2DS) is the most common contiguous microdeletion affecting humans and exhibits extreme phenotypic heterogeneity. Patients can manifest any combination of comorbidities including congenital heart disease, hypoparathyroidism, cleft palate, kidney abnormalities, neurodevelopmental disorders, and immune dysfunction. Immunodeficiency is present in the majority of patients with 22q11.2DS and is the second leading cause of death in these patients. Knowing the genetic determinants of immune dysfunction will aid in prognostication and potentially novel treatments.

Methods

We performed exome sequencing and gene-based variant association analysis on 31 deeply phenotyped individuals with the canonical 3Mb 22q11.2 deletion to identify what

SUBMITTER: Pinnaro CT 

PROVIDER: S-EPMC6978229 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature