Re-evaluation casts doubt on the pathogenicity of homozygousUSH2Ap.C759F-Reference-Cited by-同舟云学术

Re-evaluation casts doubt on the pathogenicity of homozygousUSH2Ap.C759F

Published:2015-03-30 Issue:7 Volume:167 Page:1597-1600
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

González-del Pozo María¹²,Bravo-Gil Nereida¹²,Méndez-Vidal Cristina¹²,Montero-de-Espinosa Ignacio³,Millán José M²⁴⁵,Dopazo Joaquín²⁶⁷,Borrego Salud¹²,Antiñolo Guillermo¹²⁶

Affiliation:

1. Department of Genetics; Reproduction and Fetal Medicine; Institute of Biomedicine of Seville; University Hospital Virgen del Rocío/CSIC/University of Seville; Seville Spain

2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Spain

3. Department of Ophthalmology; University Hospital Virgen Macarena; Seville Spain

4. Grupo de Investigación en Enfermedades Neurosensoriales; IIS-La Fe; Valencia Spain

5. Unidad de Genética y Diagnóstico Prenatal; Hospital Universitario La Fé; Valencia Spain

6. Genomics and Bioinformatics Platform of Andalusia (GBPA); Seville; Spain

7. Computational Genomics Department; Centro de Investigación Príncipe Felipe (CIPF); Valencia Spain

Funder

Instituto de Salud Carlos III (ISCIII)

Spanish Ministry of Economy and Competitiveness, Spain

The Foundation Ramon Areces

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37003/fullpdf

Reference13 articles.

1. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments;Aller;Eur J Hum Genet,2004

2. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray;Avila-Fernandez;Mol Vis,2010

3. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: High prevalence and phenotypic variation;Bernal;J Med Genet,2003

4. The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine;Biesecker;Genome Res,2009

5. Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene;Chang;Vision Res,2007

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1. The p.C759F Variant in <i>USH2A</i> Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes;Ophthalmic Research;2023-11-28

2. Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization;Communications Biology;2023-09-12

3. AAV-mediated base-editing therapy ameliorates the disease phenotypes in a mouse model of retinitis pigmentosa;Nature Communications;2023-08-15

4. The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1;Nature Communications;2023-02-21

5. Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant;npj Genomic Medicine;2022-06-07