Biallelic variants in YRDC cause a developmental disorder with progeroid features

  1. Schmidt, Julia ORCID logo
  2. Goergens, Jonas
  3. Pochechueva, Tatiana
  4. Kotter, Annika
  5. Schwenzer, Niko
  6. Sitte, Maren
  7. Werner, Gesa
  8. Altmüller, Janine
  9. Thiele, Holger
  10. Nürnberg, Peter
  11. Isensee, Jörg
  12. Li, Yun
  13. Müller, Christian
  14. Leube, Barbara
  15. Reinhardt, H. Christian
  16. Hucho, Tim
  17. Salinas, Gabriela
  18. Helm, Mark
  19. Jachimowicz, Ron D.
  20. Wieczorek, Dagmar
  21. Kohl, Tobias
  22. Lehnart, Stephan E.
  23. Yigit, Gökhan
  24. Wollnik, Bernd

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1000 Titel
  • Biallelic variants in YRDC cause a developmental disorder with progeroid features
1000 Autor/in
  1. Schmidt, Julia |
  2. Goergens, Jonas |
  3. Pochechueva, Tatiana |
  4. Kotter, Annika |
  5. Schwenzer, Niko |
  6. Sitte, Maren |
  7. Werner, Gesa |
  8. Altmüller, Janine |
  9. Thiele, Holger |
  10. Nürnberg, Peter |
  11. Isensee, Jörg |
  12. Li, Yun |
  13. Müller, Christian |
  14. Leube, Barbara |
  15. Reinhardt, H. Christian |
  16. Hucho, Tim |
  17. Salinas, Gabriela |
  18. Helm, Mark |
  19. Jachimowicz, Ron D. |
  20. Wieczorek, Dagmar |
  21. Kohl, Tobias |
  22. Lehnart, Stephan E. |
  23. Yigit, Gökhan |
  24. Wollnik, Bernd |
1000 Erscheinungsjahr 2021
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2021-09-20
1000 Erschienen in
1000 Quellenangabe
  • 140(12):1679-1693
1000 Copyrightjahr
  • 2021
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s00439-021-02347-3 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8553732/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • The highly conserved YrdC domain-containing protein (YRDC) interacts with the well-described KEOPS complex, regulating specific tRNA modifications to ensure accurate protein synthesis. Previous studies have linked the KEOPS complex to a role in promoting telomere maintenance and controlling genome integrity. Here, we report on a newborn with a severe neonatal progeroid phenotype including generalized loss of subcutaneous fat, microcephaly, growth retardation, wrinkled skin, renal failure, and premature death at the age of 12 days. By trio whole-exome sequencing, we identified a novel homozygous missense mutation, c.662T > C, in YRDC affecting an evolutionary highly conserved amino acid (p.Ile221Thr). Functional characterization of patient-derived dermal fibroblasts revealed that this mutation impairs YRDC function and consequently results in reduced t
1000 Sacherschließung
lokal Infant, Newborn [MeSH]
lokal Progeria/pathology [MeSH]
lokal Molecular Medicine
lokal Genomic Instability [MeSH]
lokal Original Investigation
lokal Male [MeSH]
lokal RNA, Transfer/genetics [MeSH]
lokal Developmental Disabilities/pathology [MeSH]
lokal Developmental Disabilities/genetics [MeSH]
lokal Progeria/genetics [MeSH]
lokal Human Genetics
lokal Homozygote [MeSH]
lokal Consanguinity [MeSH]
lokal Mutation [MeSH]
lokal Humans [MeSH]
lokal Sequence Analysis, RNA [MeSH]
lokal DNA Damage [MeSH]
lokal Genome, Human [MeSH]
lokal Pedigree [MeSH]
lokal Metabolic Diseases
lokal RNA-Binding Proteins/genetics [MeSH]
lokal Gene Function
lokal Alleles [MeSH]
lokal GTP-Binding Proteins/genetics [MeSH]
lokal Telomere Shortening [MeSH]
1000 Liste der Beteiligten
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1000 Erstellt am 2023-04-28T14:17:17.285+0200
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1000 Zuletzt bearbeitet 2023-10-20T19:04:43.933+0200
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