Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.

ABSTRACT:

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 s

SUBMITTER: Yauy K 

PROVIDER: S-EPMC6679470 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature