一个亚洲儿童的 13q12.3 微缺失的新型表型，其特征为癫痫发作：病例报告。
A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report.
机构信息
The Department of Acupuncture and Moxibustion, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University, Beijing Key Laboratory of Acupuncture Neuromodulation, Beijing, 100010, China.
Graduate School, Beijing University of Chinese Medicine, Beijing, 100029, China.
出版信息
BMC Med Genomics. 2020 Oct 6;13(1):144. doi: 10.1186/s12920-020-00801-1.
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 of KATNAL1 gene or the deletion unmasking a recessive mutation on the other allele, and our findings could provide a phenotypic expansion.
背景
染色体 13 的微缺失很少被报道。在此，我们报告了一例 14 岁的亚洲女性，其 13q12.3 上存在新生的微缺失。
病例介绍
患儿主要有两种类型的癫痫发作：部分发作性癫痫和肌阵挛性癫痫，伴有智力残疾、发育迟缓以及轻微的畸形特征。脑电图显示双侧颞区慢波，伴有全面性棘慢波、多棘慢波和双侧枕颞区慢波。外显子组测序显示患者 DNA 样本中没有致病性遗传变异。而单核苷酸多态性（SNP）微阵列分析显示存在一个 2.324Mb 的新生微缺失，位于染色体 13q12.3 的细胞遗传学带内。
结论
癫痫可能与 KATNAL1 基因突变或另一个等位基因隐性突变的缺失有关，我们的发现可以提供表型扩展。
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