How to cite this article: Hayashi S, Mizuno S, Migita O, Okuyama T, Makita Y, Hata A, Imoto I, Inazawa J. 2008. The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation. Am J Med Genet Part A 146A:2145–2151.
The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation†
Article first published online: 15 JUL 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 16, pages 2145–2151, 15 August 2008
How to Cite
Hayashi, S., Mizuno, S., Migita, O., Okuyama, T., Makita, Y., Hata, A., Imoto, I. and Inazawa, J. (2008), The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation. Am. J. Med. Genet., 146A: 2145–2151. doi: 10.1002/ajmg.a.32433
- Issue published online: 25 JUL 2008
- Article first published online: 15 JUL 2008
- Manuscript Accepted: 9 MAY 2008
- Manuscript Received: 22 FEB 2008
- Ministry of Education, Culture, Sports, Science, and Technology, Japan
- Core Research for Evolutional Science and Technology of the Japan Science and Technology Corporation
- New Energy and Industrial Technology Development Organization
- X-linked mental retardation;
- X-chromosome inactivation;
- Norrie disease
Here we report on a 5-year-old Japanese girl with developmental delay and microcephaly. Although she had a normal karyotype, a bacterial artificial chromosome-based array-comparative genome hybridization analysis detected a de novo 4.0-Mb heterozygous deletion at Xp11.3–p11.4 harboring nine genes. By comparison with a healthy carrier mother of a boy with atypical Norrie disease having a smaller deletion in the same region, we excluded four genes as candidates whose haploinsufficiency would be causative for developmental delay. Among the other five genes, CASK seems to be the most likely candidate for a causative gene, because it is strongly expressed in fetal brain and plays important roles in neural development and synaptic function. We confirmed that the expression of CASK mRNA was decreased in the patient compared with healthy controls and the patient's X-chromosomal inactivation was not skewed. These results suggested that the genetic deletion of CASK results in haploinsufficiency, which might be causative for the patient's developmental delay or mental retardation. © 2008 Wiley-Liss, Inc.