Whole Exome Sequencing Identifies a Novel Mutation in ADGRV1 Responsible For Usher 2C Syndrome in a Large Inbred Family.
usher syndrome, ADGRV1, usher syndrome type 2C, autosomal recessive inheritance, inbreeding
Abstract
Abstrack-Introduction: High-throughput sequencing facilitates the diagnosis of Usher syndrome and other conditions involving deafness and blindness that are genetically related, with improvements not only in accurate diagnosis, time savings, and genotype-phenotype correlation. Advances in genomic sequencing also makes it possible to approach isolated or remotely located populations with community genetics methodologies.
Downloads
How to Cite
References
Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, José Millán, Gema García-García (2021) Usher Syndrome: Genetics of a Human Ciliopathy. 22(13), 6723.
I Perea-Romero, F Blanco-Kelly, I Sanchez-Navarro, I Lorda-Sanchez, S Tahsin-Swafiri, A Avila-Fernandez, I Martin-Merida, M Trujillo-Tiebas, R Lopez-Rodriguez, Rodriguez De Alba, M Iancu, I Romero, R Quinodoz, M Hakonarson, H Garcia-Sandova, B Minguez, P Corton, M Rivolta, C Ayuso, C (2021) NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases. 140(12), 1665-1678.
Heng Li, Richard Durbin (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. 26(5), 589-595.
Aaron Mckenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly, Mark Depristo (2010) The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. 20(9), 1297-1303.
Konrad Karczewski, Laurent Francioli, Grace Tiao, Beryl Cummings, Jessica Alföldi, Qingbo Wang, Ryan Collins, Kristen Laricchia, Andrea Ganna, Daniel Birnbaum, Laura Gauthier, Harrison Brand, Matthew Solomonson, Nicholas Watts, Daniel Rhodes, Moriel Singer-Berk, Eleina England, Eleanor Seaby, Jack Kosmicki, Raymond Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica Chong, Kaitlin Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne O'donnell-Luria, Eric Minikel, Ben Weisburd, Monkol Lek, James Ware, Christopher Vittal, Irina Armean, Louis Bergelson, Kristian Cibulskis, Kristen Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael Talkowski, Benjamin Neale, Mark Daly, Daniel Macarthur (2020) Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. 590(7846), E53-E53.
Alessandro Castiglione, Claes Möller (2022) Usher Syndrome. 12(1), 42-65.
M Stemerdink, B García-Bohórquez, R Schellens, G Garcia-Garcia, E Van Wijk, J Millan (2021) Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2. 141(3-4), 737-758.
(2022) National Center for Biotechnology Information (NCBI). 1-1.
D Wu, W Huang, Z Xu, S Li, J Zhang, X Chen, Y Tang, J Qiu, Z Wang, X Duan, L Zhang (2020) Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness. 8(4), 1177.
Zubin Saihan, Andrew Webster, Linda Luxon, Maria Bitner-Glindzicz (2009) Update on Usher syndrome. 22(1), 19-27.
José Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso (2011) An Update on the Genetics of Usher Syndrome. 2011, 1-8.
G Jouret, C Poirsier, M Spodenkiewicz, C Jaquin, E Gouy, C Arndt, M Labrousse, D Gaillard, M Doco-Fenzy, A-S Lebre (2019) Genetics of Usher Syndrome: New Insights From a Meta-analysis. 40, 121-129.
Published
2023-09-28
Issue
Section
License
Copyright (c) 2023 Authors and Global Journals Private Limited
This work is licensed under a Creative Commons Attribution 4.0 International License.