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Gnan C, Franzoni A, Baldan F, et al. Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy. Mol Syndromol. 2017;8(2):98-102doi: 10.1159/000454725.
Gnan, C., Franzoni, A., Baldan, F., Passon, N., Damante, G., & Dello Russo, P. (2017). Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy. Molecular syndromology, 8(2), 98-102. https://doi.org/10.1159/000454725
Gnan, Chiara, et al. "Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy." Molecular syndromology vol. 8,2 (2017): 98-102. doi: https://doi.org/10.1159/000454725
Gnan C, Franzoni A, Baldan F, Passon N, Damante G, Dello Russo P. Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy. Mol Syndromol. 2017 Mar;8(2):98-102. doi: 10.1159/000454725. Epub 2017 Jan 17. PMID: 28611550; PMCID: PMC5465700.
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Mol Syndromol. 2017 Mar;8(2):98-102. doi: 10.1159/000454725. Epub 2017 Jan 17.

Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy.

Molecular syndromology

Chiara Gnan, Alessandra Franzoni, Federica Baldan, Nadia Passon, Giuseppe Damante, Patrizia Dello Russo

Affiliations

  1. Istituto di Genetica Medica, Azienda Sanitaria Universitaria Integrata di Udine, Udine, Italy.
  2. Dipartimento di Scienze Mediche e Biologiche, Università di Udine, Udine, Italy.

PMID: 28611550 PMCID: PMC5465700 DOI: 10.1159/000454725

Abstract

The clinical use of array comparative genomic hybridization (array CGH) has allowed the identification of very rare deletion and duplication disorders, such as 5q12 deletion syndrome (OMIM 615668) described as a contiguous gene deletion syndrome of chromosome 5q12. Chromosome microdeletions including band 5q12 have rarely been reported and have been associated with different phenotypes showing postnatal growth restriction, intellectual disability, epileptic seizures, hyperactivity, and ocular abnormalities. In this study, we describe a family in which array-CGH analysis revealed the presence of an interstitial microdeletion spanning approximately 2.9 Mb in the 5q12 region. The microdeletion is associated with epilepsy in the father and 2 siblings (a boy and a girl). So far, this is the first report in which a familial microdeletion 5q12 manifests in epilepsy. We suggest that this familial microdeletion could delineate a locus for susceptibility to epilepsy.

Keywords: Array CGH; Epilepsy; Interstitial microdeletion 5q

References

  1. RNA. 2002 Apr;8(4):526-33 - PubMed
  2. Am J Med Genet A. 2015 Nov;167A(11):2737-41 - PubMed
  3. Proc Natl Acad Sci U S A. 2006 Jan 17;103(3):702-7 - PubMed
  4. J Neurosci. 2012 Oct 24;32(43):15169-80 - PubMed
  5. ChemMedChem. 2009 Mar;4(3):400-5 - PubMed
  6. Genes Cells. 2008 Apr;13(4):397-409 - PubMed
  7. Fiziol Zh. 1993 Sep-Dec;39(5-6):76-82 - PubMed
  8. Am J Med Genet A. 2011 Apr;155A(4):725-31 - PubMed
  9. Nat Cell Biol. 2000 Jul;2(7):407-14 - PubMed
  10. Gene. 2013 Mar 1;516(1):176-80 - PubMed

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