HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region

Journal article

Rationale: 22q11 deletion syndrome arises from recombination between low-copy repeats on chromosome 22. Typical deletions result in hemizygosity for TBX1 associated with congenital cardiovascular disease. Deletions distal to the typically deleted region result in a similar cardiac phenotype but lack in extracardiac features of the syndrome, suggesting that a second haploinsufficient gene maps to this interval.

Objective: The transcription factor HI...

Expand abstract

Authors: Dykes, IM; van Bueren, KL; Ashmore, RJ; Floss, T; Wurst, W

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: American Heart Association Publisher's website
• Journal: Circulation Research Journal website
• Volume: 115
• Issue: 1
• Pages: 23-31
• Publication date: 2014-04-18
• Acceptance date: 2014-04-18
• DOI: 10.1161/circresaha.115.303300
• EISSN: 1524-4571
• ISSN: 0009-7330
• Pmid: 24748541
• Language: English
• Keywords: 22q11 deletion syndrome; heart septal defects, ventricular; genetics; FFR; developmental biology; Mesp1 protein, mouse; HIC2 protein, human; models, animal
• Subjects: Genetics and Genomics; Basic, Translational, and Clinical Research; Cardiac Development, Structure and Function; Gene Expression and Regulation; Animal Models of Human Disease; Genetics; Developmental Biology