Enrichment of LOVD-USHbases with 152USH2AGenotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots-Reference-Cited by-同舟云学术

Enrichment of LOVD-USHbases with 152USH2AGenotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

Published:2014-07-15 Issue:10 Volume:35 Page:1179-1186
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Baux David¹,Blanchet Catherine²³,Hamel Christian³,Meunier Isabelle³,Larrieu Lise¹,Faugère Valérie¹,Vaché Christel¹,Castorina Pierangela⁴,Puech Bernard⁵,Bonneau Dominique⁶⁷,Malcolm Sue⁸,Claustres Mireille¹⁹¹⁰,Roux Anne-Françoise¹⁹

Affiliation:

1. CHU Montpellier; Laboratoire de Génétique Moléculaire; Montpellier F-34000 France

2. CHU Montpellier; Service ORL, Montpellier; F-34000 France

3. CHU Montpellier; Centre National de Référence Maladies Rares “Affections Sensorielles Génétiques”; Montpellier F-34000 France

4. UOC Audiologia e UO Nefrologia e Dialisi; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milano Italy

5. CHU Lille; Hôpital Roger Salengro; Exploration de la Vision et Neuro-Ophtalmologie, Lille; F-59037 France

6. CHU Angers; Service de Génétique, Angers; F-49933 France

7. UMR CNRS 6214/INSERM 771; Angers F-49000 France

8. Genomic and Genetic Medicine; Institute of Child Health; University College London; London United Kingdom

9. Inserm; U827 Montpellier F-34000 France

10. Université Montpellier 1; UFR Médecine; Laboratoire de Génétique Moléculaire; Montpellier F-34000 France

Funder

Ministï¿½re de la santï¿½

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. Audiological findings in 100 USH2 patients;Abadie;Clin Genet,2012

2. Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells;Adato;Hum Mol Genet,2005

3. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

4. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients;Baux;Hum Mutat,2007

Cited by 53 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Vision loss;Neurogenetics for the Practitioner;2024

2. USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids;Human Genetics and Genomics Advances;2023-10

3. Systematic assessment of the contribution of structural variants to inherited retinal diseases;Human Molecular Genetics;2023-02-22

4. Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A;International Journal of Molecular Sciences;2022-11-01

5. New CRISPR Tools to Correct Pathogenic Mutations in Usher Syndrome;International Journal of Molecular Sciences;2022-10-01