Early-onset ophthalmoplegia,cervical dyskinesia,and lower extremity weakness due to partial deletion of chromosome 16:A case report  

作　　者：Min Xu Jiao Jiang Yan He Wei-Yue Gu Bo Jin 

机构地区：[1]Department of Neurology,Children’s Hospital of Nanjing Medical University,Nanjing 210008,Jiangsu Province,China [2]Chigene(Beijing),Translational Medical Research Center Co.Ltd,Beijing 101111,China

出　　处：《World Journal of Clinical Cases》2022年第26期9332-9339,共8页世界临床病例杂志

摘　　要：BACKGROUND We explored the genotype-phenotype correlation of the novel deletion 16p13.2p12.3 in an 8-year-old child with progressive total ophthalmoplegia,cervical dyskinesia,and lower limb weakness by comparing the patient’s clinical features with previously reported data on adjacent copy number variation(CNV)regions.CASE SUMMARY Specifically,we first performed whole-exome sequencing,CNV-sequencing,and mitochondrial genome sequencing on the patient and his parents,then applied“MitoExome”(the entire mitochondrial genome and exons of nuclear genes encoding the mitochondrial proteome)analysis to screen for genetic mitochondrial diseases.We identified a de novo 7.23 Mb deletion,covering 16p13.2p12.3,by both whole-exome sequencing and CNV sequencing.We also detected 16p13.11 in the deleted region,which is the recurrent distinct region associated with neurodevelopmental disorder.However,the patient only displayed features of progressive total ophthalmoplegia,cervical dyskinesia,and weakness in his lower limbs without neurodevelopmental disorder.The“MitoExome”sequencing was negative.Brain magnetic resonance imaging revealed non-specific sporadic changes in the occipital parietal lobe and basal ganglia.CONCLUSION Taken together,these results indicated that 16p13.2p12.3 deletion causes a syndrome with the phenotype of early-onset total ophthalmoplegia.The“MitoExome”analysis is powerful for the differential diagnosis of mitochondrial diseases.We report a novel copy number variant in this case,but further confirmation is required.

关 键 词：Cervical dyskinesia Copy number variation Lower limbs weakness OPHTHALMOPLEGIA Whole-exome sequencing Case report 

分 类 号：R725.9[医药卫生—儿科]