Christopher Smith and colleagues report on a patient from a consanguineous family presenting with phenotype resembled a skeletal ciliopathy. Due to the presence of parental consanguinity, they analysed the candidate gene WDR35 by sequencing of all coding exons and focused their analyses on homozygous recessive mutations. They identified a novel homozygous nonsynonymous variant in WDR35, p.Trp1153Cys.
Smith, Christopher et al. American Journal of Medical Genetics Part A.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague