Simona Markova and colleagues report a Sanger-sequecing analysis done on eight small NSHL-AR (non-syndromic deafness, autosomal recessive) genes to hereditary hearing loss in Czech patients. They identified variants predicted as pathogenic in genes CABP2, ILDR1, LHFPL5 and LRTOMT. Their diagnostic approach permitted the clarification of HL in only one patient – two heterozygous mutations were detected in LHFPL5 gene for the first time in Central Europe.
Markova, Simona et al. International Journal of Pediatric Otorhinolaryngology.
"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