Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

ABSTRACT:

Background & aims

Very early onset inflammatory bowel diseases (VEOIBD), including infant disorders, are a diverse group of diseases found in children younger than 6 years of age. They have been associated with several gene variants. Our aim was to identify the genes that cause VEOIBD.

Methods

We performed whole exome sequencing of DNA from 1 infant with severe enterocolitis and her parents. Candidate gene mutations were validated in 40 pediatric patients and functional studies were carried out using intestinal samples and human intestinal cell lines.

Results

We identified compound heterozygote mutations in the Tetratricopeptide repeat domain 7 (TTC7A) gene in an infant from non-consanguineous parents with severe exfoliative apoptotic enterocolitis; we also detected T

SUBMITTER: Avitzur Y 

PROVIDER: S-EPMC4002656 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature