RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes
| Autor: | Casie A. Genetti, Ferne Pinard, Abhijit S. Rao, Emily A. Garvey, Stephen W. Scherer, Christopher A. Walsh, Dimitri J. Stavropoulos, Mehdi Zarrei, Adam W. Hansen, Eugene J. D'Angelo, Emma A. Deaso, Annmarie Caracansi, Jill A. Rosenfeld, Hesham M. Hamoda, Richard S. Smith, Mark P. Gorman, Alan H. Beggs, Jianqiao Li, Richard A. Gibbs, Devon Carroll, Catherine A. Brownstein, Joseph Gonzalez-Heydrich, Jennifer L. Howe, David C. Glahn, Margaret A. Hojlo, Lance H. Rodan, Pankaj B. Agrawal, Joshua J. Bowen, Kristin Cabral, Weimin Bi |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Male Adolescent DNA Copy Number Variations Catatonia Biology medicine.disease_cause Article 03 medical and health sciences Cellular and Molecular Neuroscience symbols.namesake 0302 clinical medicine Exome Sequencing medicine Genetics Humans Copy-number variation Molecular Biology Index case Exome sequencing Mutation medicine.disease Phenotype Psychiatry and Mental health 030104 developmental biology Mood Mendelian inheritance symbols Psychiatric disorders 030217 neurology & neurosurgery |
| Zdroj: | Molecular Psychiatry |
| ISSN: | 1476-5578 1359-4184 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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