An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients-Reference-Cited by-同舟云学术

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Published:2016-07-27 Issue:12 Volume:24 Page:1730-1738
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201699.pdf

Reference43 articles.

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2. Kimberling WJ, Hildebrand MS, Shearer AE et al: Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med 2010; 12: 512–516.

3. Bonnet C, El-Amraoui A : Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol 2012; 25: 42–49.

4. Ebermann I, Phillips JB, Liebau MC et al: PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Investig 2010; 120: 1812–1823.

5. Khateb S, Zelinger L, Mizrahi-Meissonnier L et al: A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. J Med Genet 2014; 51: 460–469.

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