Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, andPEX26mutated in Heimler syndrome-Reference-Cited by-同舟云学术

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, andPEX26mutated in Heimler syndrome

Published:2017-07-06 Issue:5 Volume:5 Page:531-552
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Neuhaus Christine¹,Eisenberger Tobias¹,Decker Christian¹,Nagl Sandra¹,Blank Cornelia¹,Pfister Markus²³,Kennerknecht Ingo⁴,Müller-Hofstede Cornelie⁴,Charbel Issa Peter⁵⁶⁷^ORCID,Heller Raoul⁸,Beck Bodo⁸,Rüther Klaus⁹,Mitter Diana¹⁰,Rohrschneider Klaus¹¹,Steinhauer Ute¹²,Korbmacher Heike M.¹³,Huhle Dagmar¹⁴,Elsayed Solaf M.¹⁵¹⁶,Taha Hesham M.¹⁶,Baig Shahid M.¹⁷,Stöhr Heidi¹⁸,Preising Markus¹⁹,Markus Susanne²⁰,Moeller Fabian²¹,Lorenz Birgit¹⁹,Nagel-Wolfrum Kerstin²¹,Khan Arif O.²²²³,Bolz Hanno J.¹⁸^ORCID

Affiliation:

1. Bioscientia Center for Human Genetics; Ingelheim Germany

2. HNO-Praxis Sarnen; Sarnen Switzerland

3. Molecular Genetics, THRC; Department of Otolaryngology; University of Tübingen; Tübingen Germany

4. Institute of Human Genetics; Westfälische Wilhelms-Universität; Münster Germany

5. Department of Ophthalmology; University of Bonn; Bonn Germany

6. Center for Rare Diseases Bonn (ZSEB); University of Bonn; Bonn Germany

7. Oxford Eye Hospital; University of Oxford; Oxford UK

8. Institute of Human Genetics; University Hospital of Cologne; Cologne Germany

9. Sankt Gertrauden-Krankenhaus; Berlin Germany

10. Institute of Human Genetics; University of Leipzig Hospitals and Clinics; Leipzig Germany

11. Department of Ophthalmology; University of Heidelberg; Heidelberg Germany

12. Cölbe; Cölbe Germany

13. Department of Orthodontics; Giessen and Marburg University Hospital, Marburg Campus; Marburg Germany

14. Praxis für Humangenetik Leipzig; Leipzig Germany

15. Medical Genetics Center; Cairo Egypt

16. Children's Hospital; Ain Shams University; Cairo Egypt

17. Human Molecular Genetics Laboratory; Health Biotechnology Division; National Institute for Biotechnology and Genetic Engineering (NIBGE); Faisalabad Pakistan

18. Department of Human Genetics; University Medical Center Regensburg; Regensburg Germany

19. Department of Ophthalmology; Justus-Liebig-University Giessen; Giessen Germany

20. MVZ Dr. Staber und Kollegen GmbH; Regensburg Germany

21. Department of Cell and Matrix Biology; Institute of Zoology, Johannes Gutenberg; University of Mainz; Mainz Germany

22. Division of Pediatric Ophthalmology; King Khaled Eye Specialist Hospital; Riyadh Saudi Arabia

23. Eye Institute; Cleveland Clinic; Abu Dhabi UAE

Funder

Forschung contra Blindheit, Initiative Usher-Syndrom e.V.

GEERS-Stiftung

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.312/fullpdf

Reference122 articles.

1. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins;Adato;Am. J. Hum. Genet.,1997

2. Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families;Adato;Hum. Mutat.,2000

3. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr. Protoc. Hum. Genet.,2013

4. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23;Ahmed;Hum. Mol. Genet.,2003

5. A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome;Akoury;Ophthalmic Genet.,2011

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