How to cite this article: Cho G, Bhat SS, Gao J, Collins JS, Rogers RC, Simensen RJ, Schwartz CE, Golden JA, Srivastava AK. 2008. Evidence that SIZN1 is a candidate X-linked mental retardation gene. Am J Med Genet Part A 146A:2644–2650.
Evidence that SIZN1 is a candidate X-linked mental retardation gene†
Version of Record online: 16 SEP 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 20, pages 2644–2650, 15 October 2008
How to Cite
Cho, G., Bhat, S. S., Gao, J., Collins, J. S., Rogers, R. C., Simensen, R. J., Schwartz, C. E., Golden, J. A. and Srivastava, A. K. (2008), Evidence that SIZN1 is a candidate X-linked mental retardation gene. Am. J. Med. Genet., 146A: 2644–2650. doi: 10.1002/ajmg.a.32472
- Issue online: 24 SEP 2008
- Version of Record online: 16 SEP 2008
- Manuscript Accepted: 6 JUN 2008
- Manuscript Received: 10 APR 2008
- NIH. Grant Numbers: NS45034, HD26202
- South Carolina Department of Disabilities and Special Needs
- SIZN1 (ZCCHC12);
- forebrain cholinergic neuron;
- X-linked mental retardation
An estimated 1–3% of individuals within the United States are diagnosed with mental retardation (MR), yet the cause is unknown in nearly 50% of the patients. While several environmental, genetic and combined teratogenetic etiologies have been identified, many causative genes remain to be identified. Furthermore, the pathogenetic mechanisms underlying MR are known for very few of these genes. Males have a much higher incidence of MR implicating genes on the X-chromosome. We have recently identified a novel gene, SIZN1, on the X-chromosome and showed that it functions in modulating the BMP signaling pathway. Furthermore, we have shown this gene is necessary for basal forebrain cholinergic neuron (BFCN) specific gene expression. Given that cognitive function is impaired when BFCNs are lost or functionally disrupted, we undertook a screen of cognitively impaired males for SIZN1 mutations. We report on four different sequence variants in SIZN1 in 11 individuals with nonsyndromic X-linked mental retardation(XLMR). Our data implicate SIZN1 as a candidate gene for XLMR and/or as a neurocognitive functional modifier. © 2008 Wiley-Liss, Inc.