摘要
[目的]探讨10q24.3缺失导致全面性发育迟缓患儿的诊断方法。[方法]通过回顾性分析1例全面性发育迟缓患儿的临床资料以及患儿和患儿父母家系低深度全基因组拷贝数变异测序(CNVseq)和家系全外显子组测序(WES)的检测结果。[结果]患儿为10月龄男性,四大能区均有发育落后,并伴有特殊面容(眼距增宽、斜视、鼻梁低平、前额凸出、腭裂、高腭弓等),四肢肌张力低下等表现,CNVseq和WES基因检测发现患儿存在10q24.3新发杂合缺失,该区间包含基底细胞痣综合征基因SUFU和低镁血症、癫痫及智力发育迟滞关联基因CNNM2,局灶性节段性肾小球硬化伴神经发育综合征TRIM8基因,推测患儿发病的原因与SUFU基因和CNNM2基因以及TRIM8基因缺失高度相关。[结论]对全面性发育迟缓、特殊面容表现的患儿应尽早完善基因检测,以明确诊断,有利于判断预后。
[Objective]To discuss the diagnostic methods of global developmental delay caused by 10q24.3 heterozy⁃gous loss.[Methods]A retrospective analysis was conducted on the clinical data of one child with global developmental de⁃lay,and the results of low depth whole-genome copy number variation sequencing(CNVseq)and family whole exome se⁃quencing(WES)of the child and his parents.[Results]The patient was a 10-month-old male with developmental retarda⁃tion in four areas,with some special features(ocular hypertelorism,strabismus,flat nose bridge,protruding forehead,cleft palate,high palatal arch,etc.)and hypotonia of limbs.The CNVseq and WES test showed that the patient had new 10q24.3 heterozygosis loss.Because this region contains the gene SUFU associated with basal cell nevus syndrome and the gene CNNM2 associated with hypomagnesemia,seizures,and mental retardation,and the gene TRIM8 associated of Focal segmental glomerulosclerosis with neurodevelopmental syndrome,we speculated that the cause of the disease in the child was highly related to the heterozygosity deletion of SUFU gene and CNNM2 gene and TRIM8 gene.[Conclusion]Genetic testing should be improved as soon as possible for children with global developmental delay and special facial manifesta⁃tions,so as to make clear diagnosis and to judge prognosis.
作者
段远辉
曹洁
欧跃徐
李洁玲
DUAN Yuan-hui;CAO Jie;OU Yue-xu;LI Jie-ling(Department of General Medicine,Ministry of Education Key Laboratory of Child Development and Disorders,National Clinical Research Center for Child Health and Disorders,China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Chongqing Key Laboratory of Pediatrics.Children’s Hospital of Chongqing Medical University,Chongqing 400014,China)
出处
《中山大学学报（医学科学版）》
CAS
CSCD
北大核心
2023年第2期348-353,共6页
Journal of Sun Yat-Sen University:Medical Sciences
