A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability
Article first published online: 30 APR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 6, pages 1487–1490, June 2013
How to Cite
2013. A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability. Am J Med Genet Part A 161A:1487–1490., , , , , .
- Issue published online: 22 MAY 2013
- Article first published online: 30 APR 2013
- Manuscript Accepted: 25 JAN 2013
- Manuscript Received: 3 JAN 2012
- Research Council of Lithuania National Research Program
- ERBB4 gene;
- 2q34 deletion;
- intellectual disability
We report on a 15-year-old patient with hyperactivity, intellectual disability and severe speech developmental delay. An array CGH analysis revealed de novo 2q34 deletion, 958 kb in size, involving a single protein coding gene ERBB4 (position 212,505,294–213,463,152; NCBI build 36). The ERBB4 gene is important in numerous neurobiological processes in both the developing and the adult brain. The NRG1–ERBB4 signaling pathway has been recently implicated in the pathophysiology of schizophrenia and epilepsy. Many risk haplotypes were identified in several studies across different populations. The severe clinical consequences in our patient demonstrate that the haploinsufficiency of ERBB4 is crucial for intellectual and cognitive function. These observations are compatible with previously reported results. © 2013 Wiley Periodicals, Inc.