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Title: Transcriptome analysis of a ring chromosome 20 patient cohort.
Austin Authors: Myers, Kenneth A;Bennett, Mark F ;Hildebrand, Michael S ;Coleman, Matthew J;Zhou, Geyu;Hollingsworth, Georgie;Cairns, Anita;Riney, Kate;Berkovic, Samuel F ;Bahlo, Melanie;Scheffer, Ingrid E 
Affiliation: Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada
Queensland Children's Hospital, Brisbane, Queensland, Australia
Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Flemington, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health
University of Queensland, Brisbane, Queensland, Australia
Research Institute of the McGill University Medical Centre, Montreal, QC, Canada
Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia
Medicine (University of Melbourne)
Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia
Epilepsy Research Centre
Issue Date: Jan-2021
Date: 2020-11-18
Publication information: Epilepsia 2021; 62(1): e22-e28
Abstract: Ring chromosomes occur when the ends of normally rod-shaped chromosomes fuse. In ring chromosome 20 (ring 20), intellectual disability and epilepsy are usually present, even if there is no deleted coding material; the mechanism by which individuals with complete ring chromosomes develop seizures and other phenotypic abnormalities is not understood. We investigated altered gene transcription as a contributing factor by performing RNA-sequencing (RNA-seq) analysis on blood from seven patients with ring 20, and 11 first-degree relatives (all parents). Geographic analysis did not identify altered expression in peritelomeric or other specific chromosome 20 regions. RNA-seq analysis revealed 97 genes potentially differentially expressed in ring 20 patients. These included one epilepsy gene, NPRL3, but this finding was not confirmed on reverse transcription Droplet Digital polymerase chain reaction analysis. Molecular studies of structural chromosomal anomalies such as ring chromosome are challenging and often difficult to interpret because many patients are mosaic, and there may be genome-wide chromosomal instability affecting gene expression. Our findings nevertheless suggest that peritelomeric altered transcription is not the likely pathogenic mechanism in ring 20. Underlying genetic mechanisms are likely complex and may involve differential expression of many genes, the majority of which may not be located on chromosome 20.
DOI: 10.1111/epi.16766
ORCID: 0000-0001-7831-4593
Journal: Epilepsia
PubMed URL: 33207017
Type: Journal Article
Subjects: NPRL3
focal cortical dysplasia
focal epilepsy
ring chromosome 20 syndrome
ring chromosomes
sequence analysis
Appears in Collections:Journal articles

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