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Novel mutation in GLRB in a large family with hereditary hyperekplexia
Article first published online: 7 APR 2011
DOI: 10.1111/j.1399-0004.2011.01661.x
© 2011 John Wiley & Sons A/S
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How to Cite
Al-Owain, M., Colak, D., Al-Bakheet, A., Al-Hashmi, N., Shuaib, T., Al-Hemidan, A., Aldhalaan, H., Rahbeeni, Z., Al-Sayed, M., Al-Younes, B., Ozand, P. and Kaya, N. (2012), Novel mutation in GLRB in a large family with hereditary hyperekplexia. Clinical Genetics, 81: 479–484. doi: 10.1111/j.1399-0004.2011.01661.x
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Equal Contribution.
Publication History
- Issue published online: 11 APR 2012
- Article first published online: 7 APR 2011
- Accepted manuscript online: 10 MAR 2011 12:33PM EST
- Received 28 November 2010, revised and accepted for publication 4 March 2011
- Abstract
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Supporting Information
The following Supporting information is available for this article:
Fig. S1. Genome-wide LOD score calculation. The linkage analysis results are presented with the use of the Affymetrix 250K StyI array genotyping data. In family 1, one clear peak is visible on chromosome 4 with a high LOD score of 4.9405.
Fig. S2. Mutation, in silico proteomics and 3-D location analysis of the mutation. (a) Shows the chromatograms for all the three branches of the family. (b) The proteome analysis and amino acid change of human GLRB are shown (blue arrow and the ends of red arrows). (c) Location of the mutation (yellow arrow) is indicated on the hypothetical 3-D structure of GLRB (c1 is the top view; c2 and c3 show the views from the bottom and from the left to right sides, respectively.).
Fig. S3. Gene interaction network analysis of genes interacting with GLRB (circled in blue). Nodes represent genes, with their shape representing the functional class of the gene product, and edges indicate biological relationship between the nodes (see legend). Gray indicates genes that had co-occurred with GLRB in the literature according to Ingenuity knowledgebase and PubGene.
Fig. S4. (a) Network analysis of hyperekplexia-associated genes. The GLRB gene is circled in blue. (b) IPA functional analysis revealed that genes in the network were significantly associated with the nervous system development and function and neurological disease.
Additional Supporting information may be found in the online version of this article.
| Filename | Format | Size | Description |
|---|---|---|---|
| CGE_1661_sm_fs1_fs4.pdf | 5640K | Supporting info item |
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