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|Title:||A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child : a case report||Authors:||Wang, Mina
|Keywords:||Science::Biological sciences||Issue Date:||2020||Source:||Wang, M., Li, B., Liao, Z., Jia, Y. & Fu, Y. (2020). A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child : a case report. BMC Medical Genomics, 13(1). https://dx.doi.org/10.1186/s12920-020-00801-1||Journal:||BMC Medical Genomics||Abstract:||Background: The microdeletion of chromosome 13 has been rarely reported. Here, we report a 14-year old Asian female with a de novo microdeletion on 13q12.3. Case presentation: The child suffered mainly from two types of epileptic seizures: partial onset seizures and myoclonic seizures, accompanied with intellectual disability, developmental delay and minor dysmorphic features.The electroencephalogram disclosed slow waves in bilateral temporal, together with generalized spike-and-slow waves, multiple-spike-and-slow waves and slow waves in bilateral occipitotemporal regions. The exome sequencing showed no pathogenic genetic variation in the patient’s DNA sample. While the single nucleotide polymorphism(SNP) array analysis revealed a de novo microdeletion spanning 2.324 Mb, within the cytogenetic band 13q12.3. Conclusions: The epilepsy may be associated with the mutation ofKATNAL1gene or the deletion unmasking a recessive mutation on the other allele, and our findings could provide a phenotypic expansion.||URI:||https://hdl.handle.net/10356/146981||ISSN:||1755-8794||DOI:||10.1186/s12920-020-00801-1||Rights:||© 2020 The Author(s). This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visithttp://creativecommons.org/licenses/by/4.0/.The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.||Fulltext Permission:||open||Fulltext Availability:||With Fulltext|
|Appears in Collections:||SBS Journal Articles|
Updated on Feb 6, 2023
Updated on Feb 6, 2023
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