Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

doi:10.3390/ijms22126419

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Article

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

International journal of molecular sciences - 15 Jun 2021

Reurink Janine, Dockery Adrian, Oziębło Dominika, Farrar G Jane, Ołdak Monika, Ten Brink Jacoline B, Bergen Arthur A, Rinne Tuula, Yntema Helger G, Pennings Ronald J E, van den Born L Ingeborgh, Aben Marco, Oostrik Jaap, Venselaar Hanka, Plomp Astrid S, Khan M Imran, van Wijk Erwin, Cremers Frans P M, Roosing Susanne, Kremer Hannie

Abstract excerpt

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...

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PMID: 34203967
DOI: 10.3390/ijms22126419
PMCID: PMC8232728

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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