ArticleAmerican journal of human genetics2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
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Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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51 citing papers in PubMed, 80 citations in OpenAlex.
- Human Cyclophilins-An Emerging Class of Drug Targets.Medicinal research reviews · 2026Review
- Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Biomolecules · 2025Review
- Biallelic loss-of-function variants inJournal of medical genetics · 2025Article
- RNA dysfunction in age-related macular degeneration: the role of U1 snRNP complex and neurodegenerative diseases.International journal of retina and vitreous · 2025Review
- Single-Cell Transcriptomics in Inherited Retinal Dystrophies: Current Findings and Emerging Perspectives.Genes · 2025Review
- Identifying a unique chromosomal pattern to predict the gemcitabine response in patients with cholangiocarcinoma.Scientific reports · 2025Article
- Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms.Frontiers in cell and developmental biology · 2025Review
- Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft.Human mutation · 2025Article
- Enhanced Learning and Memory in Patients withGenes · 2024Article
- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.American journal of human genetics · 2023Article
- Alternative RNA Splicing in the Retina: Insights and Perspectives.Cold Spring Harbor perspectives in medicine · 2023Review
- Decreased spliceosome fidelity and egl-8 intron retention inhibit mTORC1 signaling to promote longevity.Nature aging · 2022Article
- Emerging roles of spliceosome in cancer and immunity.Protein & cell · 2022Review
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
- TTC30A and TTC30B Redundancy Protects IFT Complex B Integrity and Its Pivotal Role in Ciliogenesis.Genes · 2022Article
- Retinitis Pigmentosa: Progress in Molecular Pathology and Biotherapeutical Strategies.International journal of molecular sciences · 2022Review
- Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo.Human molecular genetics · 2022Article
- Integrative QTL mapping and selection signatures in Groningen White Headed cattle inferred from whole-genome sequences.PloS one · 2022Article
- Susceptibility Loci in SLC15A1, UGT1A3, and CWC27 Genes Associated with Bladder Cancer in the Northeast Chinese Population.BioMed research international · 2022Article
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Authors and funding
52 authors at 20 institutions in 9 countries.
Mingchu XuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Yajing Angela XieDepartment of Ophthalmology, Columbia University, New York, NY 10032, USA.
Hana AbouzeidInstitute for Research in Ophthalmology, 1950 Sion, Switzerland.
Christopher T GordonLaboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.
Alessia FiorentinoUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Zixi SunDepartment of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Anna LehmanDepartment of Medical Genetics, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Ihab S OsmanDepartment of Ophthalmology, Cairo University, Cairo 11562, Egypt.
Rachayata DharmatDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Rosa Riveiro-AlvarezDepartment of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain.
Linda Bapst-WichtInstitute for Research in Ophthalmology, 1950 Sion, Switzerland.
Darwin BabinoDepartment of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
Gavin ArnoUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK.
Virginia BusettoLaboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Institut de Biologie de l'ENS (IBENS), CNRS UMR 8197, INSERM U1024, Ecole Normale Supérieure, PSL Research University, 75005 Paris, France.
Li ZhaoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA.
Hui LiDepartment of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Miguel A Lopez-MartinezDepartment of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain.
Liliana F AzevedoInstitute for Research in Ophthalmology, 1950 Sion, Switzerland.
Laurence HubertParis Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Translational Genetics, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
Nikolas PontikosUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Genetics Institute, University College London, London WC1E 6BT, UK.
Aiden EblimitDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Isabel Lorda-SanchezDepartment of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain.
Valeria KheirInstitute for Research in Ophthalmology, 1950 Sion, Switzerland.
Vincent PlagnolGenetics Institute, University College London, London WC1E 6BT, UK.
Myriam OufademLaboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.
Zachry T SoensDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Lizhu YangDepartment of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Christine Bole-FeysotParis Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Genomic Platform, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
Rolph PfundtDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, 6525 Nijmegen, the Netherlands.
Nathalie Allaman-PilletInstitute for Research in Ophthalmology, 1950 Sion, Switzerland.
Patrick NitschkéParis Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
Michael E CheethamUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Stanislas LyonnetLaboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
Smriti A AgrawalDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Huajin LiDepartment of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Gaëtan PintonInstitute for Research in Ophthalmology, 1950 Sion, Switzerland.
Michel MichaelidesUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK.
Claude BesmondParis Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Translational Genetics, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
Yumei LiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Zhisheng YuanDepartment of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Johannes von LintigDepartment of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
Andrew R WebsterUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK.
Hervé Le HirInstitut de Biologie de l'ENS (IBENS), CNRS UMR 8197, INSERM U1024, Ecole Normale Supérieure, PSL Research University, 75005 Paris, France.
Peter StoilovDepartment of Biochemistry and Cancer Institute, Robert C. Byrd Health Sciences Center, West Virginia University, Morgantown, WV 26506, USA.
UK Inherited Retinal Dystrophy Consortium
Jeanne AmielLaboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
Alison J HardcastleUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Carmen AyusoDepartment of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain.
Ruifang SuiDepartment of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Rui ChenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: ruichen@bcm.edu.
Rando AllikmetsDepartment of Ophthalmology, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address: rla22@cumc.columbia.edu.
Daniel F SchorderetInstitute for Research in Ophthalmology, 1950 Sion, Switzerland; University of Lausanne and Swiss Federal Institute of Technology, 1015 Lausanne, Switzerland.
University College London · GBInstitut de Recherche en Opthalmologie · CHBaylor College of Medicine · USChinese Academy of Medical Sciences & Peking Union Medical College · CNHospital Universitario Fundación Jiménez Díaz · ESInstituto de Investigación de Enfermedades Raras · ESBaylor Genetics · USColumbia University · USInserm · FRInstitut des Maladies Génétiques Imagine · FRPeking Union Medical College Hospital · CNUniversité Paris Cité · FRCairo University · EGCase Western Reserve University · USDélégation Paris 5 · FRÉcole Normale Supérieure - PSL · FRHôpital Necker-Enfants Malades · FRInstitut de Biologie de l'École Normale Supérieure · FRInstituto de Salud Carlos III · ESMoorfields Eye Hospital · GB
Funding
VISION RESEARCH CENTERP30EY002520 · NEI · BAYLOR COLLEGE OF MEDICINE · PI Samuel M Wu · 1985 to 2026
$14.8MInstrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9MGENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2MTherapeutic approaches for ABCA4-associated disordersR24EY019861 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2011 to 2015
$7.2MMolecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1MVision Sciences Training GrantT32EY013933 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Carol A. Mason, CAROL M TROY · 2001 to 2026
$5.3MCarotinoids in VisionR01EY020551 · NEI · CASE WESTERN RESERVE UNIVERSITY · PI VON LINTIG, JOHANNES FRIEDRICH · 2011 to 2024
$4.8MCompleting genetic analysis of the ABCA4 locusR01EY021163 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2011 to 2014
$2.4MFGI: Acquisition of an Illumina Genome Analyzer System for Functional Genomic ResS10RR026550 · NCRR · BAYLOR COLLEGE OF MEDICINE · PI CHEN, RUI · 2010 to 2010
$500kAssessment of murine retinal acuity ex vivo by machine learning of multielectrode array recordingsK99EY031333 · NEI · UNIVERSITY OF WASHINGTON · PI BABINO, DARWIN · 2020 to 2021
$226kNCRR NIH HHS S10 RR026550NEI NIH HHS K99 EY031333NEI NIH HHS P30 EY002520NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY018571NEI NIH HHS R01 EY020551NEI NIH HHS R01 EY021163NEI NIH HHS R01 EY022356NEI NIH HHS R24 EY019861NEI NIH HHS T32 EY013933
Abstract
Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent findings. Here we report that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe syndromic forms. By whole-exome sequencing, recessive protein-truncating mutations in CWC27 were found in seven unrelated families that show a range of clinical phenotypes, including retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological defects. Remarkably, variable expressivity of the human phenotype can be recapitulated in Cwc27 mutant mouse models, with significant embryonic lethality and severe phenotypes in the complete knockout mice while mice with a partial loss-of-function allele mimic the isolated retinal degeneration phenotype. Our study describes a retinal dystrophy-related phenotype spectrum as well as its genetic etiology and highlights the complexity of the spliceosomal gene network.
Indexed as
MutationAbnormalities, MultipleAdolescentAnimalsChildChild, PreschoolCyclophilinsFemaleHumansMaleMicePedigreePeptidylprolyl IsomeraseRetinal DegenerationYoung AdultCwc27 protein, humanCWC27 spliceosome-associated protein, mouseCyclophilinsPeptidylprolyl Isomerasebrachydachtylycraniofacial defectsCRISPR-Cas9CWC27neurological defectsretinal degenerationshort staturespliceosomesyndrome
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