A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child : a case report

• Main Authors: Wang, Mina, Li, Bin, Liao, Zehuan, Jia, Yu, Fu, Yuanbo
• Other Authors: School of Biological Sciences
• Format: Article
• Language: English
• Published: 2021
• Subjects: Science::Biological sciences; Epilepsy; 13q12.3
• Online Access: https://hdl.handle.net/10356/146981
• Institution: Nanyang Technological University

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.