Yu An and Sami S. Amr contributed equally to this study.
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay
Article first published online: 6 SEP 2013
© 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 162, Issue 8, pages 832–840, December 2013
How to Cite
2013. SOX12 and NRSN2 Are Candidate Genes for 20p13 Subtelomeric Deletions Associated With Developmental Delay. Am J Med Genet Part B 162B:832–840., , , , , , , , , , , , .
No conflict of interest for all authors.
- Issue published online: 4 NOV 2013
- Article first published online: 6 SEP 2013
- Manuscript Accepted: 26 JUN 2013
- Manuscript Received: 29 MAR 2013
- Wellcome Trust
- Shanghai “Eastern Scholar” program
- 973 National Basic Research Program of China. Grant Number: 2010CB529601
- developmental delay;
20p13 telomeric/subtelomeric deletions are clinically significant but are currently under-investigated. So far only five molecularly delineated cases have been reported in literature and no candidate genes have been sufficiently implicated. Here, we present six new deletion cases identified by chromosomal microarray analysis (CMA). We also review 32 cases combined from literature and databases. We found that most 20p13 deletion patients exhibit significant developmental delay. Dysmorphic features are common but a consistent pattern was not recognized. Reduced cognitive ability was frequent. Based on pathogenic deletions delineated in this study, we mapped the smallest overlapping region and identified two nervous system expressing genes (SOX12 and NRSN2) as candidate genes that may be involved in the developmental defects in 20p13 microdeletion. © 2013 Wiley Periodicals, Inc.