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

Mina Wang,Yuanbo Fu,Bin Li,Yu Jia,Zehuan Liao

doi:10.1186/s12920-020-00801-1

Abstract

BackgroundThe 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 presentationThe 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.ConclusionsThe 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.

Highlights

The microdeletion of chromosome 13 has been rarely reported
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
The exome sequencing was normal that no pathogenic genetic variation was detected in the patient’s or her mother’s DNA sample (Supplementary Table 1)

Summary

Introduction

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. M. Drummond-Borg et al [5] have reported a complex chromosome rearrangement involving chromosome 2,13, and 20 in the normal mother of a girl with mild clinical features, developmental delay and an interstitial deletion of 13q12.1-q14.1. Drummond-Borg et al [5] have reported a complex chromosome rearrangement involving chromosome 2,13, and 20 in the normal mother of a girl with mild clinical features, developmental delay and an interstitial deletion of 13q12.1-q14.1 Another 14 cases of de novo 13q partial deletions (seven terminal and seven interstitial) ranging from 4.2 to 75.7 Mb showed varying degrees of intellectual disability and specific clinical features, among them, 8 had central nervous system anomalies, 6 had eyes abnormalities, 9 had facial dysmorphisms and 10 had hand or feet anomalies [6]. A child with approximate 12 Mb deletion involving chromosome bands 13q12.3-13q14.11 showed immunodeficiency with

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