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Dad S, Rendtorff ND, Tranebjærg L, et al. Usher syndrome in Denmark: mutation spectrum and some clinical observations. Mol Genet Genomic Med. 2016;4(5):527-539doi: 10.1002/mgg3.228.
Dad, S., Rendtorff, N. D., Tranebjærg, L., Grønskov, K., Karstensen, H. G., Brox, V., Nilssen, �. �., Roux, A. F., Rosenberg, T., Jensen, H., & Møller, L. B. (2016). Usher syndrome in Denmark: mutation spectrum and some clinical observations. Molecular genetics & genomic medicine, 4(5), 527-539. https://doi.org/10.1002/mgg3.228
Dad, Shzeena, et al. "Usher syndrome in Denmark: mutation spectrum and some clinical observations." Molecular genetics & genomic medicine vol. 4,5 (2016): 527-539. doi: https://doi.org/10.1002/mgg3.228
Dad S, Rendtorff ND, Tranebjærg L, Grønskov K, Karstensen HG, Brox V, Nilssen Ø, Roux AF, Rosenberg T, Jensen H, Møller LB. Usher syndrome in Denmark: mutation spectrum and some clinical observations. Mol Genet Genomic Med. 2016 Jun 28;4(5):527-539. doi: 10.1002/mgg3.228. eCollection 2016 Sep. PMID: 27957503; PMCID: PMC5023938.
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Mol Genet Genomic Med. 2016 Jun 28;4(5):527-539. doi: 10.1002/mgg3.228. eCollection 2016 Sep.

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Molecular genetics & genomic medicine

Shzeena Dad, Nanna Dahl Rendtorff, Lisbeth Tranebjærg, Karen Grønskov, Helena Gásdal Karstensen, Vigdis Brox, Øivind Nilssen, Anne-Françoise Roux, Thomas Rosenberg, Hanne Jensen, Lisbeth Birk Møller

Affiliations

  1. Applied Human Genetics Kennedy Center Department of Clinical Genetics Copenhagen University Rigshospitalet Glostrup Denmark.
  2. Applied Human GeneticsKennedy CenterDepartment of Clinical GeneticsCopenhagen UniversityRigshospitaletGlostrupDenmark; Department of Cellular and Molecular MedicineThe Faculty of Health SciencesUniversity of Copenhagen2200CopenhagenDenmark; Department of Otorhinolaryngology, Head & Neck Surgery and AudiologyBispebjerg Hospital/RigshospitaletCopenhagenDenmark.
  3. Applied Human GeneticsKennedy CenterDepartment of Clinical GeneticsCopenhagen UniversityRigshospitaletGlostrupDenmark; Department of Cellular and Molecular MedicineThe Faculty of Health SciencesUniversity of Copenhagen2200CopenhagenDenmark.
  4. Department of Cellular and Molecular Medicine The Faculty of Health Sciences University of Copenhagen 2200 Copenhagen Denmark.
  5. Department of Medical Genetics University Hospital of North-Norway N-9038 Tromsø Norway.
  6. Department of Medical GeneticsUniversity Hospital of North-NorwayN-9038TromsøNorway; Department of Clinical Medicine, Medical GeneticsUniversity of TromsøNO-9037TromsøNorway.
  7. Laboratoire de Génétique MoléculaireCHU MontpellierMontpellierF-34000France; U827InsermMontpellierF-34000France.
  8. The National Eye ClinicThe Kennedy CenterDepartment of OphthalmologyCopenhagen University Hospital2600RigshospitaletGlostrupDenmark; Institute of Clinical MedicineThe Faculty of Health SciencesUniversity of Copenhagen2200Copenhagen NDenmark.
  9. The National Eye Clinic The Kennedy Center Department of Ophthalmology Copenhagen University Hospital 2600 Rigshospitalet Glostrup Denmark.
  10. Applied Human GeneticsKennedy CenterDepartment of Clinical GeneticsCopenhagen UniversityRigshospitaletGlostrupDenmark; Department of Cellular and Molecular MedicineThe Faculty of Health SciencesUniversity of Copenhagen2200CopenhagenDenmark; Department of Science Systems and Models (NSM)Roskilde UniversityDK 4000RoskildeDenmark.

PMID: 27957503 PMCID: PMC5023938 DOI: 10.1002/mgg3.228

Abstract

BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3.

METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods.

RESULTS: Before Next Generation Sequencing (NGS) became available mutations in nine individuals (1 USH1, 7 USH2, 1 USH3) were identified by Sanger sequencing of

CONCLUSION: Mutations that lead to USH1 were predominantly identified in

Keywords: Cataract; Denmark; Usher syndrome; macular edema; mutation; olfactory function; targeted NGS

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