How to Cite this Article: Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Yoshihashi H, Kubota T, Nakagawa E, Goto Y-i, Inazawa J. 2012. The incidence of hypoplasia corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints. Am J Med Genet Part A. 158A:1292–1303.
The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints†
Version of Record online: 23 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 6, pages 1292–1303, June 2012
How to Cite
Honda, S., Hayashi, S., Nakane, T., Imoto, I., Kurosawa, K., Mizuno, S., Okamoto, N., Kato, M., Yoshihashi, H., Kubota, T., Nakagawa, E., Goto, Y.-i. and Inazawa, J. (2012), The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints. Am. J. Med. Genet., 158A: 1292–1303. doi: 10.1002/ajmg.a.35321
- Issue online: 17 MAY 2012
- Version of Record online: 23 APR 2012
- Manuscript Accepted: 23 JAN 2012
- Manuscript Received: 6 DEC 2010
- Ministry of Education, Culture, Sports, Science and Technology, Japan
- New Energy and Industrial Technology Development Organization (NEDO)
- Ministry of Health, Labor and Welfare, Japan
- Joint Usage/Research of Medical Research Institute, Tokyo Medical Dental University
- Research Fellowship of the Japan Society for the Promotion of Science (JSPS) for Young Scientists
- genotype–phenotype correlation;
- low copy repeats;
- intellectual disability
Duplications of Xq28 harboring the methyl CpG binding protein 2 (MECP2) gene explain approximately 1% of X-linked intellectual disability (XLID). The common clinical features observed in patients with dup(X)(q28) are severe ID, infantile hypotonia, mild dysmorphic features and a history of recurrent infections, and MECP2 duplication syndrome is now recognized as a clinical entity. While some patients with this syndrome have other characteristic phenotypes, the reason for the spectrum of phenotypes has not been clarified. Since dup(X)(q28) rearrangements vary in size and location, genes other than MECP2 might affect the phenotype. We used a high-density oligonucleotide array to carry out precise mapping in eight Japanese families in which dup(X)(q28) was detected using an in-house bacterial artificial chromosome-based microarray to screen cohorts of individuals with multiple congenital anomalies and intellectual disability (MCA/ID) or with XLID. We hypothesized that the size, gene content, and location of dup(X)(q28) may contribute to variable expressively observed in MECP2 duplication syndrome. Genotype–phenotype correlation in our cases together with cases reported in the literature suggested that copy-number gains between two low copy repeats (LCRK1 and LCRL1) are associated with the incidence of hypoplasia of the corpus callosum. Further studies are necessary to understand the mechanism of this association. © 2012 Wiley Periodicals, Inc.