Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

• DOI: 10.1186/1750-1172-6-21
• Publication Date: 2011-05-12T06:44:48Z
• Authors: Crystel Bonnet; M'hamed Grati; Sandrine Marlin; Jacqueline Levill...; Jean-Pierre Hardelin; Marine Parodi; Magali Niasme-Grare; Diana Zelenika; Marc Délépine; Delphine Feldmann; Laurence Jonard; Aziz El-Amraoui; Dominique Weil; Bruno Delobel; Christophe Vincent; Hélène Dollfus; Marie-Madeleine E...; Albert David; Catherine Calais; Jacqueline Vigneron; Bettina Montaut-V...; Dominique Bonneau; Jacques Dubin; Christel Thauvin; Alain Duvillard; Christine Francannet; Thierry Mom; Didier Lacombe; Françoise Duriez; Valérie Drouin-Ga...; Marie-Françoise T...; Sabine Sigaudy; Anne-Marie Frances; Patrick Collignon; Georges Challe; Rémy Couderc; Mark Lathrop; José-Alain Sahel; Jean Weissenbach; Christine Petit; Françoise Denoyelle
• Keywords: Usher syndrome

Usher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis critical for adapted educational and patient management choices, genetic counseling. To date, nine causative genes have been identified the three clinical subtypes (USH1, USH2 USH3). Current diagnostic strategies make use of a genotyping microarray that based on previously reported mutations. The purpose this study was to design more accurate molecular tool.We sequenced 366 coding exons flanking regions known USH genes, 54 patients (27 USH1, 21 6 USH3).Biallelic mutations were detected 39 (72%) monoallelic additional 10 (18.5%). In addition biallelic one presumably pathogenic another gene seven (13%), carried different genes. Notably, none USH3 detectable only gene, whereas they all Most importantly, currently used would 30 81 we found, which (48%) novel.Based these results, complete exon sequencing stands as definite improvement disease, utmost importance perspective therapy.