How to Cite this Article: Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto, N, Koike K, Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature 2012. Am J Med Genet Part A 158A:861–868.
Article first published online: 9 MAR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 4, pages 861–868, April 2012
How to Cite
Motobayashi, M., Nishimura-Tadaki, A., Inaba, Y., Kosho, T., Miyatake, S., Niimi, T., Nishimura, T., Wakui, K., Fukushima, Y., Matsumoto, N. and Koike, K. (2012), Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature. Am. J. Med. Genet., 158A: 861–868. doi: 10.1002/ajmg.a.35235
Mitsuo Motobayashi and Akira Nishimura-Tadaki have contributed equally to this work.
- Issue published online: 23 MAR 2012
- Article first published online: 9 MAR 2012
- Manuscript Accepted: 23 DEC 2011
- Manuscript Received: 27 JUN 2011
- Research on Intractable Diseases, Ministry of Health, Labour and Welfare
- Japan Society for the Promotion of Science
- Japanese Epilepsy Research Foundation
- Naito Foundation
- 2q23.1 microdeletion syndrome;
- array CGH;
- neurological features;
2q23.1 microdeletion syndrome is a recently characterized chromosomal aberration disorder uncovered through array comparative genomic hybridization (array CGH). Although the cardinal feature is intellectual disability (ID), neurodevelopmental features of the syndrome have not been systematically reviewed. We present a 5-year-old boy with severe psychomotor developmental delay/ID, progressive microcephaly with brain atrophy, growth retardation, and several external anomalies. He manifested intractable epilepsy, effectively treated with combined antiepileptic drug therapy including topiramate. Array CGH demonstrated a de novo interstitial deletion of approximately 1 Mb at 2q23.1–q23.2, involving four genes including MBD5. Nineteen patients have been reported to have the syndrome, including present patient. All patients whose data were available had ID, 17 patients (89%) had seizures, and microcephaly was evident in 9 of 18 patients (50%). Deletion sizes ranged from 200 kb to 5.5 Mb, comprising 1–15 genes. MBD5, the only gene deleted in all patients, is considered to be responsible for ID and epilepsy. Furthermore, the deletion junction was sequenced for the first time in a patient with the syndrome; and homology of three nucleotides, identified at the distal and proximal breakpoints, suggested that the deletion might have been mediated by recently-delineated genomic rearrangement mechanism Fork Stalling and Template Switching (FoSTeS)/microhomology-mediated break-induced replication (MMBIR). © 2012 Wiley Periodicals, Inc.