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Case Reports
. 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

Chiara Gnan  1 , Alessandra Franzoni  1 , Federica Baldan  1 , Nadia Passon  1 , Giuseppe Damante  1   2 , Patrizia Dello Russo  1
Affiliations
Case Reports

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

Chiara Gnan et al. Mol Syndromol. 2017 Mar.

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.

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Figures

Fig. 1
Fig. 1
Array CGH and quantitative PCR. A Array-CGH profile using Genomic Workbench 6.5.018 Lite Edition Software. The value of zero represents equal fluorescence intensity ratio between the sample and reference gDNA. Copy number losses shift the ratio to the left and copy number gains to the right. Red and green dots indicate values above or below the 0 baseline, respectively. B Values of quantitative PCR in the deleted region. Each bar indicates the mean values ± 3 SD. NC, normal control; PR, proband; MO, mother; FA, father; SI, sister.
Fig. 2
Fig. 2
Figure showing the 5q12.3 region (genome assembly, Feb. 2009). The numbers at the top of the figure indicate the position (Mb). The genes contained in the deleted regions are indicated by black lines. The bars show the deleted region in patients reported by Jaillard et al. [2011], Cetin et al. [2013], and our case. The common deleted region is indicated by the RefSeq genes according to the UCSC Database.
See this image and copyright information in PMC

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