机构：[1]The Department of Acupuncture and Moxibustion, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University, Beijing Key Laboratory of Acupuncture Neuromodulation, Beijing, 100010, China.[2]Graduate School, Beijing University of Chinese Medicine, Beijing, 100029, China.[3]School of Biological Sciences, Nanyang Technological University, 60 Nanyang Drive, Singapore, 637551, Singapore.[4]Department of Microbiology, Tumor and Cell Biology (MTC), Karolinska Institutet, Biomedicum, Solnavägen 9, 17177, Stockholm, Sweden.[5]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China
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.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.The epilepsy may be associated with the mutation of KATNAL1 gene or the deletion unmasking a recessive mutation on the other allele, and our findings could provide a phenotypic expansion.
基金：
This work was supported by Beijing Municipal Administration of Hospitals’ Youth Program, Grant No. QML 20150904
第一作者机构：[1]The Department of Acupuncture and Moxibustion, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University, Beijing Key Laboratory of Acupuncture Neuromodulation, Beijing, 100010, China.[2]Graduate School, Beijing University of Chinese Medicine, Beijing, 100029, China.
通讯作者：
推荐引用方式(GB/T 7714)：
Mina Wang,Bin Li,Zehuan Liao,et al.A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report.[J].BMC MEDICAL GENOMICS.2020,13(1):doi:10.1186/s12920-020-00801-1.
APA：
Mina Wang,Bin Li,Zehuan Liao,Yu Jia&Yuanbo Fu.(2020).A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report..BMC MEDICAL GENOMICS,13,(1)
MLA：
Mina Wang,et al."A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report.".BMC MEDICAL GENOMICS 13..1(2020)
