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.
"I have previously used Alamut Visual in the UK and it is an invaluable resource for variant curation which I was keen to bring into use in my new role in New Zealand. provides a convenient and user-friendly interface which pulls together literature searches, population databases and in silico prediction tools. This enables streamlining of the curation process and saves a lot of time."
Wellington Regional Genetics Laboratory, Wellington, New Zealand