Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility-Reference-Cited by-同舟云学术

Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

Published:2020-02-12 Issue:5 Volume:41 Page:998-1011
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ascari Giulia¹^ORCID,Peelman Frank²^ORCID,Farinelli Pietro³⁴^ORCID,Rosseel Toon¹^ORCID,Lambrechts Nina¹^ORCID,Wunderlich Kirsten A.³⁵^ORCID,Wagner Matias⁶⁷⁸^ORCID,Nikopoulos Konstantinos⁹^ORCID,Martens Pernille⁴,Balikova Irina¹⁰¹¹^ORCID,Derycke Lara¹²^ORCID,Holtappels Gabriële¹²,Krysko Olga¹²^ORCID,Van Laethem Thalia¹,De Jaegere Sarah¹,Guillemyn Brecht¹^ORCID,De Rycke Riet¹³¹⁴^ORCID,De Bleecker Jan¹⁵,Creytens David¹⁶^ORCID,Van Dorpe Jo¹⁶^ORCID,Gerris Jan¹⁷,Bachert Claus¹²^ORCID,Neuhofer Christiane¹⁸^ORCID,Walraedt Sophie¹⁰,Bischoff Almut¹⁹,Pedersen Lotte B.⁴^ORCID,Klopstock Thomas¹⁹²⁰²¹^ORCID,Rivolta Carlo³²²²³²⁴^ORCID,Leroy Bart P.¹¹⁰²⁵^ORCID,De Baere Elfride¹^ORCID,Coppieters Frauke¹^ORCID

Affiliation:

1. Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University HospitalGhent University Ghent Belgium

2. Department of Medical Protein Research, Faculty of Medicine and Health Sciences, Flanders Institute for Biotechnology (VIB)Ghent University Ghent Belgium

3. Department of Computational Biology, Unit of Medical GeneticsUniversity of Lausanne Lausanne Switzerland

4. Department of BiologyUniversity of Copenhagen Copenhagen Denmark

5. Department of Physiological GenomicsBMC, Ludwig‐Maximilians‐Universität München Planegg Germany

6. Institute of Human Genetics, Faculty of MedicineTechnical University of Munich Munich Germany

7. Institute of Human Genetics, Helmholtz Zentrum MünchenDeutsches Forschungszentrum für Gesundheit und Umwelt (GmbH) Neuherberg Germany

8. Institut für Neurogenomik, Helmholtz Zentrum MünchenDeutsches Forschungszentrum für Gesundheit und Umwelt (GmbH) Neuherberg Germany

9. Oncogenomics laboratory, Department of HematologyLausanne University Hospital (CHUV) Lausanne Switzerland

10. Department of OphthalmologyGhent University Hospital Ghent Belgium

11. Department of OphthalmologyUniversity Hospital Leuven Leuven Belgium

12. Upper Airways Research Laboratory, Department OtorhinolaryngologyGhent University Hospital Ghent Belgium

13. Department of Biomedical Molecular Biology and Expertise Centre for Transmission Electron MicroscopyGhent University Ghent Belgium

14. VIB Center for Inflammation Research and BioImaging CoreVIB Ghent Belgium

15. Department of NeurologyGhent University Hospital Ghent Belgium

16. Department of PathologyGhent University Hospital Ghent Belgium

17. Department of Human Structure and RepairGhent University Hospital Ghent Belgium

18. Institute of Human GeneticsUniversity Medical Center Göttingen (UMG) Göttingen Germany

19. Department of Neurology, Friedrich‐Baur‐InstituteLudwig‐Maximilians‐University Munich Germany

20. German Center for Neurodegenerative Diseases (DZNE) Munich Germany

21. Munich Cluster for Systems Neurology (SyNergy) Munich Germany

22. Clinical Research CenterInstitute of Molecular and Clinical Ophthalmology Basel (IOB) Basel Switzerland

23. Department of OphthalmologyUniversity Hospital Basel Basel Switzerland

24. Department of Genetics and Genome BiologyUniversity of Leicester Leicester UK

25. Division of Ophthalmology and Center for Cellular and Molecular TherapeuticsThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

Funder

Hercules Foundation

Carlsbergfondet

Det Frie Forskningsråd

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Fonds Wetenschappelijk Onderzoek

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23993

Reference59 articles.

1. Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

2. The molecular basis of human retinal and vitreoretinal diseases

3. Cep78 is a novel centriolar protein involved in Plk4-induced centriole overduplication

4. Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes ( SPAG17 and WDR35 ) in a patient with multiple brain and skeletal anomalies

5. Data services and software for identifying genes and mutations causing retinal degeneration;Daiger S.;Investigative Ophthalmology and Visual Science,1998

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1. Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice;Human Molecular Genetics;2023-04-18

2. Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual;eLife;2023-02-09

3. Loss-of-function mutations in CEP78 cause male infertility in humans and mice;Science Advances;2022-10-07

4. Sperm centriole assessment identifies male factor infertility in couples with unexplained infertility – a pilot study;European Journal of Cell Biology;2022-06

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