A De Novo Deletion at 16q24.3 Involving ANKRD11 in a Japanese Patient With KBG Syndrome
Article first published online: 5 MAR 2013
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 5, pages 1073–1077, May 2013
How to Cite
2012. A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. Am J Med Genet Part A 161A:1073–1077., , , , , , .
- Issue published online: 22 APR 2013
- Article first published online: 5 MAR 2013
- Manuscript Accepted: 24 AUG 2012
- Manuscript Received: 28 MAR 2012
- Ministry of Health, Labour, and Welfare of Japan
- Japan Science and Technology Agency
- Ministry of Education, Culture, Sports, Science, and Technology of Japan
- Japan Society for the Promotion of Science
- Yokohama City University
- Japan Epilepsy Research Foundation
- Takeda Science Foundation
- KBG syndrome;
- 16q24.3 microdeletion syndrome;
- de novo deletion
KBG syndrome is a rare autosomal dominant congenital syndrome comprising developmental delay with various neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism, and skeletal anomalies. ANKRD11 was recently identified as the gene responsible for this syndrome. To date, there have been only five KBG syndrome families described, each carrying a single base substitution or a 1- to 14-bp deletion of this gene. Here, we present a patient with clinically confirmed KBG syndrome carrying a de novo 690-kb deletion at 16q24.3 involving part of ANKRD11. He had characteristic facial appearance, macrodontia of the upper central incisors, hand anomalies, delayed bone age and intellectual impairment without autistic features. Interestingly, the deleted region overlaps with the critical region for 16q24.3 microdeletion syndrome. We discuss the clinical entities of KBG syndrome and 16q24.3 microdeletion syndrome from a clinical and genetic point of view. © 2013 Wiley Periodicals, Inc.