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

• Main Authors: Kevin Yauy (Author), Anouck Schneider (Author), Bee Ling Ng (Author), Jean-Baptiste Gaillard (Author), Satish Sati (Author), Christine Coubes (Author), Constance Wells (Author), Magali Tournaire (Author), Thomas Guignard (Author), Pauline Bouret (Author), David Geneviève (Author), Jacques Puechberty (Author), Franck Pellestor (Author), Vincent Gatinois (Author)
• Format: Book
• Published: BMC, 2019-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 explo...