Article
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
European journal of human genetics : EJHG - 1 Dec 2016
Bonnet Crystel, Riahi Zied, Chantot-Bastaraud Sandra, Smagghe Luce, Letexier Mélanie, Marcaillou Charles, Lefèvre Gaëlle M, Hardelin Jean-Pierre, El-Amraoui Aziz, Singh-Estivalet Amrit, Mohand-Saïd Saddek, Kohl Susanne, Kurtenbach Anne, Sliesoraityte Ieva, Zobor Ditta, Gherbi Souad, Testa Francesco, Simonelli Francesca, Banfi Sandro, Fakin Ana, Glavač Damjan, Jarc-Vidmar Martina, Zupan Andrej, Battelino Saba, Martorell Sampol Loreto, Claveria Maria Antonia, Catala Mora Jaume, Dad Shzeena, Møller Lisbeth B, Rodriguez Jorge Jesus, Hawlina Marko, Auricchio Alberto, Sahel José-Alain, Marlin Sandrine, Zrenner Eberhart, Audo Isabelle, Petit Christine
Abstract excerpt
Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes (USH1-3) are distinguishable based on the severity of the sensorineural hearing impairment, the presence or absence of vestibular dysfunction, and the age of onset of the retinitis pigmentosa. A total of 10 causal genes, 6 for USH1, 3 for USH2,...
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