ArticleAmerican journal of human genetics2017
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
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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 21 papers.
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21 citing papers in PubMed, 41 citations in OpenAlex.
- Targeting CDKs in the RNAPII transcription cycle.Nature reviews. Drug discovery · 2026Review
- The influence of structural variants from 2445 pigs on gene expression and complex traits.Nature communications · 2026Article
- CDK10 suppresses nucleic acid sensors-mediated antitumor immunity.Nature cancer · 2026Article
- Cyclin-dependent kinase 10 controls bone formation and is linked to human skeletal health.Journal of orthopaedic translation · 2026Article
- CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.Clinical genetics · 2025Article
- Cyclin-dependent protein kinases and cell cycle regulation in biology and disease.Signal transduction and targeted therapy · 2025Review
- Illumination of understudied ciliary kinases.Frontiers in molecular biosciences · 2024Review
- Cyclin-dependent kinases: Masters of the eukaryotic universe.Wiley interdisciplinary reviews. RNA · 2023Review
- Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium.HGG advances · 2022Article
- Functional characterization of the human Cdk10/Cyclin Q complex.Open biology · 2022Article
- Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.NPJ genomic medicine · 2022Article
- High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.American journal of human genetics · 2021Article
- Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders.Molecular genetics & genomic medicine · 2021Article
- Cyclin-dependent kinases and rare developmental disorders.Orphanet journal of rare diseases · 2020Review
- Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.NAR genomics and bioinformatics · 2020Article
- Mesenchymal Stem Cell-Specific and Preosteoblast-Specific Ablation of TSC1 in Mice Lead to Severe and Slight Spinal Dysplasia, Respectively.BioMed research international · 2020Article
- Development of a CDK10/CycMFrontiers in chemistry · 2020Article
- Association of Cyclin Dependent Kinase 10 and Transcription Factor 2 during Human Corneal Epithelial Wound Healing in vitro model.Scientific reports · 2019Article
- Exon level machine learning analyses elucidate novel candidate miRNA targets in an avian model of fetal alcohol spectrum disorder.PLoS computational biology · 2019Article
- Observational
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Authors and funding
37 authors at 14 institutions in 9 countries.
Christian WindpassingerInstitute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.
Juliette PiardCentre de Génétique Humaine, Centre Hospitalier Universitaire Besançon, 25030 Besançon, France; Integrative and Cognitive Neuroscience Research Unit EA481, Université de Franche-Comté, 25030 Besançon, France.
Carine BonnardInstitute of Medical Biology, Agency for Science, Technology, and Research, Singapore 138648, Republic of Singapore.
Majid AlfadhelKing Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh 11481, Saudi Arabia.
Shuhui LimInstitute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
Xavier BisteauInstitute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
Stéphane BlouinLudwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna, Austria.
Nur'Ain B AliInstitute of Medical Biology, Agency for Science, Technology, and Research, Singapore 138648, Republic of Singapore.
Alvin Yu Jin NgInstitute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
Hao LuInstitute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
Sumanty TohariInstitute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
S Zakiah A TalibInstitute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
Noémi van HulInstitute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
Matias J CaldezInstitute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; National University of Singapore, Department of Biochemistry, Singapore 117597, Republic of Singapore.
Lionel Van MaldergemCentre de Génétique Humaine, Centre Hospitalier Universitaire Besançon, 25030 Besançon, France; Integrative and Cognitive Neuroscience Research Unit EA481, Université de Franche-Comté, 25030 Besançon, France.
Gökhan YigitInstitute of Human Genetics, University Medical Center Göttingen, 37099 Göttingen, Germany.
Hülya KayseriliDepartment of Medical Genetics, Koç University, School of Medicine, 34010 Topkapı, Istanbul, Turkey.
Sameh A YoussefDepartment of Pathobiology, Faculty of Veterinary Medicine, Utrecht University, 3584 CL Utrecht, the Netherlands.
Vincenzo CoppolaNational Cancer Institute, Mouse Cancer Genetics Program, NCI Frederick, Building 560, 1050 Boyles Street, Frederick, MD 21702-1201, USA.
Alain de BruinDepartment of Pathobiology, Faculty of Veterinary Medicine, Utrecht University, 3584 CL Utrecht, the Netherlands.
Lino TessarolloNational Cancer Institute, Mouse Cancer Genetics Program, NCI Frederick, Building 560, 1050 Boyles Street, Frederick, MD 21702-1201, USA.
Hyungwon ChoiInstitute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Saw Swee Hock School of Public Health, National University Singapore, Singapore National University Health System, Singapore 117549, Republic of Singapore.
Verena RuppInstitute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.
Katharina RoetzerLudwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna, Austria; Center for Medical Genetics, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna, Austria; Sigmund Freud Private University, Medical School, Freudplatz 1, 1020 Vienna, Austria.
Paul RoschgerLudwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna, Austria.
Klaus KlaushoferLudwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna, Austria.
Janine AltmüllerCologne Center for Genomics, University of Cologne, Weyertal 115b, 50931 Cologne, Germany.
Sudipto RoyInstitute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Department of Paediatrics, School of Medicine, National University of Singapore, Singapore 119228, Republic of Singapore; Department of Biological Sciences, National University of Singapore, Singapore 117558, Republic of Singapore.
Byrappa VenkateshInstitute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Department of Paediatrics, School of Medicine, National University of Singapore, Singapore 119228, Republic of Singapore.
Rudolf GangerOrthopedic Hospital of Speising, Speisinger Strasse 109, 1130 Vienna, Austria.
Franz GrillOrthopedic Hospital of Speising, Speisinger Strasse 109, 1130 Vienna, Austria.
Farid Ben ChehidaCenter of Radiology, Department of Imaging Studies-Ibn Zohr Institute, Tunis, City Khadra 1003, Tunisia.
Bernd WollnikInstitute of Human Genetics, University Medical Center Göttingen, 37099 Göttingen, Germany.
Umut AltunogluMedical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey.
Ali Al KaissiLudwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna, Austria; Orthopedic Hospital of Speising, Speisinger Strasse 109, 1130 Vienna, Austria.
Bruno ReversadeInstitute of Medical Biology, Agency for Science, Technology, and Research, Singapore 138648, Republic of Singapore; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Department of Medical Genetics, Koç University, School of Medicine, 34010 Topkapı, Istanbul, Turkey; Department of Paediatrics, School of Medicine, National University of Singapore, Singapore 119228, Republic of Singapore; Amsterdam Reproduction & Development, Academic Medical Centre & VU University Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands. Electronic address: bruno@reversade.com.
Philipp KaldisInstitute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; National University of Singapore, Department of Biochemistry, Singapore 117597, Republic of Singapore. Electronic address: kaldis@imcb.a-star.edu.sg.
Agency for Science, Technology and Research · SGHanusch Hospital · ATCentre Hospitalier Universitaire de Besançon · FRMedical University of Graz · ATNational Cancer Institute · USOrthopaedic Hospital Speising · ATUniversitätsmedizin Göttingen · DEUtrecht University · NLIstanbul University · TRKing Saud bin Abdulaziz University for Health Sciences · SAKoç University · TRSigmund Freud Privatuniversität Wien · ATUniversité Ibn Khaldoun · TNUniversity of Cologne · DE
Funding
Gene Targeting FacilityZICBC011265 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI TESSAROLLO, LINO · 2010 to 2025
$8.9MAbstract
In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating with this disease. CDK10 is a protein kinase that partners with cyclin M to phosphorylate substrates such as ETS2 and PKN2 in order to modulate cellular growth. To validate and model the pathogenicity of these CDK10 germline mutations, we generated conditional-knockout mice. Homozygous Cdk10-knockout mice died postnatally with severe growth retardation, skeletal defects, and kidney and lung abnormalities, symptoms that partly resemble the disease's effect in humans. Fibroblasts derived from affected individuals and Cdk10-knockout mouse embryonic fibroblasts (MEFs) proliferated normally; however, Cdk10-knockout MEFs developed longer cilia. Comparative transcriptomic analysis of mutant and wild-type mouse organs revealed lipid metabolic changes consistent with growth impairment and altered ciliogenesis in the absence of CDK10. Our results document the CDK10 loss-of-function phenotype and point to a function for CDK10 in transducing signals received at the primary cilia to sustain embryonic and postnatal development.
Indexed as
MutationAnimalsCell CycleCell ProliferationCells, CulturedChildChild, PreschoolCiliaCyclin-Dependent KinasesDevelopmental DisabilitiesEmbryo, MammalianFemaleFibroblastsGrowth DisordersHumansInfantCDK10 protein, humanCdk10 protein, mouseCyclin-Dependent KinasesAl Kaissi syndrome knockout miceCDK10ciliacongenital disorderETS2growth retardationmetabolismspine malformation
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