Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
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Le résumé fourni par la source
A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete USH2A screening in the early days of genetic testing. These cases lack eligibility for optimal genetic counseling and future therapy. USH2A defects are the most frequent cause of USH2 and are also causative in individuals with arRP. Therefore, USH2A is an important target for genetic screening. The aim of this study was to assess unscreened or incompletely screened and unexplained USH2 and arRP cases for (likely) pathogenic USH2A variants. Molecular inversion probe (MIP)-based sequencing was performed for the USH2A exons and their flanking regions, as well as published deep-intronic variants. This was done to identify single nucleotide variants (SNVs) and copy number variants (CNVs) in 29 unscreened or partially pre-screened USH2 and 11 partially pre-screened arRP subjects. In 29 out of these 40 cases, two (likely) pathogenic variants were successfully identified. Four of the identified SNVs and one CNV were novel. One previously identified synonymous variant was demonstrated to affect pre-mRNA splicing. In conclusion, genetic diagnoses were obtained for a majority of cases, which confirms that MIP-based sequencing is an effective screening tool for USH2A. Seven unexplained cases were selected for future analysis with whole genome sequencing.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
- Date Crossref
- 15/06/2021
- Éditeur
- MDPI AG
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Radboud University Nijmegen pays non établi dans la noticeUniversité ou école supérieure
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Radboud University Medical Center Department of Human Genetics pays non établi dans la noticeOrganisme public
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Trinity College Dublin pays non établi dans la noticeUniversité ou école supérieure
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Medical University of Warsaw pays non établi dans la noticeUniversité ou école supérieure
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Institute of Physiology and Pathology of Hearing Department of Genetics pays non établi dans la noticeStructure de recherche
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Postgraduate School of Molecular Medicine pays non établi dans la noticeStructure de recherche
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Amsterdam University Medical Centers pays non établi dans la noticeÉtablissement de santé
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University of Amsterdam Department of Clinical Genetics pays non établi dans la noticeUniversité ou école supérieure
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Rotterdam Eye Hospital pays non établi dans la noticeÉtablissement de santé
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Radboud Institute for Molecular Life Sciences pays non établi dans la noticeStructure de recherche
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The School of Genetics & Microbiology pays non établi dans la noticeUniversité ou école supérieure
Radboud University Nijmegen, Department of Human Genetics — Radboud University Medical Center et Trinity College Dublin, avec 8 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.