作者
Kevin Yauy, Anouck Schneider, Bee Ling Ng, Jean-Baptiste Gaillard, Satish Sati, Christine Coubes, Constance Wells, Magali Tournaire, Thomas Guignard, Pauline Bouret, David Geneviève, Jacques Puechberty, Franck Pellestor, Vincent Gatinois
发表日期
2019/12
期刊
BMC Medical Genomics
卷号
12
页码范围
1-6
出版商
BioMed Central
简介
Background
Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints.
Case presentation
Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient.
Conclusions
Pathogenicity of MEF2C overexpression is still unclear as only four …
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K Yauy, A Schneider, BL Ng, JB Gaillard, S Sati… - BMC Medical Genomics, 2019