Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles

Sir, We read with interest the article by Uhlig on the Mendelian forms of IBD.1 Mendelian forms of Crohn's disease (CD) are rare but can establish a causal link that is not usually possible by the genome-wide association study (GWAS) design. In order to accelerate the discovery of Mendelian CD, we recruited four cooperative families in which the healthy consanguineous parents had at least two affected children with early onset CD (<10 years of age), consistent with autosomal recessive inheritance (see online supplementary figure S1). With informed consent according to an Institutional Review Board approved protocol (KFSHRC RAC# 2121053), we proceeded with autozygosity mapping using AgileMultiIdeogram (http://dna.leeds.ac.uk/agile/AgileMultiIdeogram/) followed by whole-exome sequencing (WES) as previously described.2 Online supplementary table S1 shows the iterative filtering of the resulting variants based on homozygosity, predicted pathogenicity, location within the autozygome and novelty. Family 1 consists of...

Source: Gut - October 2, 2014 Category: Gastroenterology Authors: Patel, N., El Mouzan, M. I., Al-Mayouf, S. M., Adly, N., Mohamed, J. Y., Al Mofarreh, M. A., Ibrahim, N., Xiong, Y., Zhao, Q., Al-Saleem, K. A., Alkuraya, F. S. Tags: PostScript Source Type: research