ArticleMolecular psychiatry2021
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Article in Molecular psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.European psychiatry : the journal of the Association of European Psychiatrists · 2025Pooled it
- Somatic mutation profiles in aged military nuclear test veterans: A comparative whole-genome sequence study.PloS one · 2026Article
- Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.Genome medicine · 2025Article
- Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic.JAACAP open · 2025Review
- Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy.Disease models & mechanisms · 2024Article
- Prognosis-Related Molecular Subtypes and Immune Features Associated with Hepatocellular Carcinoma.Cancers · 2022Article
- Maize RNA 3'-terminal phosphate cyclase-like protein promotes 18S pre-rRNA cleavage and is important for kernel development.The Plant cell · 2022Article
- Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.Annals of clinical and translational neurology · 2022Article
- Rcl1 suppresses tumor progression of hepatocellular carcinoma: a comprehensive analysis of bioinformatics and in vitro experiments.Cancer cell international · 2022Article
- Multiclass Cancer Prediction Based on Copy Number Variation Using Deep Learning.Computational intelligence and neuroscience · 2022Article
- Advances in autism research, 2021: continuing to decipher the secrets of autism.Molecular psychiatry · 2021Article
- Identifying Prognostic Significance of RCL1 and Four-Gene Signature as Novel Potential Biomarkers in HCC Patients.Journal of oncology · 2021Article
Corrections and comments
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Authors and funding
30 authors at 4 institutions in 2 countries.
Funding
Abstract
Mendelian and early-onset severe psychiatric phenotypes often involve genetic variants having a large effect, offering opportunities for genetic discoveries and early therapeutic interventions. Here, the index case is an 18-year-old boy, who at 14 years of age had a decline in cognitive functioning over the course of a year and subsequently presented with catatonia, auditory and visual hallucinations, paranoia, aggression, mood dysregulation, and disorganized thoughts. Exome sequencing revealed a stop-gain mutation in RCL1 (NM_005772.4:c.370 C > T, p.Gln124Ter), encoding an RNA 3'-terminal phosphate cyclase-like protein that is highly conserved across eukaryotic species. Subsequent investigations across two academic medical centers identified eleven additional cases of RCL1 copy number variations (CNVs) with varying neurodevelopmental or psychiatric phenotypes. These findings suggest that dosage variation of RCL1 contributes to a range of neurological and clinical phenotypes.
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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.