摘要
目的明确1例以热性惊厥为主要症状的女性患儿的遗传学病因。方法应用全外显子测序技术和全基因组拷贝数变异测序技术(copy number variation sequencing,CNV-Seq)对患儿进行分子学检测,并对微缺失区域进行家系荧光定量PCR验证。结果患儿的全外显子测序未发现与热性惊厥相关的致病性变异;CNV-seq检测结果显示患儿16号染色体短臂1.5 Mb的杂合性缺失(chr16:14982579-16524069×1),该区域包含16个蛋白编码基因;荧光定量PCR检测结果提示患儿及父亲在ABCC6、MYH11及NDE1基因上存在杂合缺失,提示该缺失来源于父亲。结论16p13.11微缺失综合征临床多样性较强,除已报道与癫痫、智力障碍、多发畸形、自闭症等症状有关外,部分患者可仅表现为热性惊厥。本例患儿检测到16p13.11微缺失,提示该区域或区域内的部分基因可能与热性惊厥有关,该区域拷贝数变异可能为该患儿的遗传学病因。
Objective To explore the genetic basis for a girl with febrile convulsion as the main manifestation.Methods The child was subjected to whole exome sequencing(WES)and copy number variation sequencing(CNV-seq).Fluorescence quantitative PCR was carried out to validate the microdeletion in her family.Results The 7-year-old girl was diagnosed with febrile convulsion(complex type)for having fever for 3 days,mild cough and low thermal convulsion once.Her father,mother and aunt also had a history of febrile convulsion.A heterozygous deletion with a size of approximately 1.5 Mb was detected in the 16p13.11 region by WES and CNV-seq.The deletion has derived from her father and was confirmed by fluorescence quantitative PCR.Conclusion 16p13.11 microdeletion syndrome has significant clinical heterogeneity.Different from those with epilepsy,mental retardation,autism,multiple malformations,carriers of 16p13.11 deletion may only manifest with febrile convulsion.Deletion of certain gene(s)from the region may be related to febrile convulsion and underlay the symptom of this child.
作者
吴婷
廖丽娜
姜晓萍
刘建荣
陈汪洋
盛敏
郭宁
Wu Ting;Liao Li’na;Jiang Xiaoping;Liu Jianrong;Chen Wangyang;Sheng Min;Guo Ning(Department of Neurology,Changzhou Children’s Hospital,Affiliated Hospital of Nantong University,Nantong,Jiangsu 213000,China;Kaiumph Medical Diagnostics Co.Ltd.,Beijing 100095,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2021年第10期981-984,共4页
Chinese Journal of Medical Genetics
