Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

ABSTRACT:

Background

The genetic etiologies of the hyper-IgE syndromes are diverse. Approximately 60% to 70% of patients with hyper-IgE syndrome have dominant mutations in STAT3, and a single patient was reported to have a homozygous TYK2 mutation. In the remaining patients with hyper-IgE syndrome, the genetic etiology has not yet been identified.

Objectives

We aimed to identify a gene that is mutated or deleted in autosomal recessive hyper-IgE syndrome.

Methods

We performed genome-wide single nucleotide polymorphism analysis for 9 patients with autosomal-recessive hyper-IgE syndrome to locate copy number variations and homozygous haplotypes. Homozygosity mapping was performed with 12 patients from 7 additional families. The candidate gene was analyzed by genomic and cDNA seque

SUBMITTER: Engelhardt KR 

PROVIDER: S-EPMC2818862 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature