ArticleHuman genetics2021
Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- A manually curated gene-phenotype catalogue for progeroid syndromes and premature aging.Aging · 2026Article
- [Research progress on monogenic inherited glomerular diseases with central nervous system symptoms].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- 3D Super-Resolution Nuclear Q-FISH Imaging Reveals Cell-Cycle-Related Telomere Changes.International journal of molecular sciences · 2024Article
- A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease.Scientific reports · 2022Article
- Metabolism Meets Translation: Dietary and Metabolic Influences on tRNA Modifications and Codon Biased Translation.Wiley interdisciplinary reviews. RNAReview
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Authors and funding
24 authors at 8 institutions in 2 countries.
Funding
Abstract
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
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.