摘要
目的对1例婴儿癫痫和发育障碍患儿的SYNE1基因进行变异分析,明确其遗传学病因.方法应用目标区域捕获测序法进行神经系统发育疾病相关基因外显子检测.结果患儿3个月时起病,6个月时诊断为癫痫,3周岁时诊断为智力障碍和发育迟缓.基因变异分析检测到患儿SYNE1基因c.3842T>G(p.Leu1281X)无义变异,为未报道过的新变异;患儿父亲也检测出SYNE1基因c.3842T>G变异,但存在表型异质性,父亲在婴幼儿期曾有多次抽搐发作史,但未见明显智力落后和发育障碍.结论SYNE1基因c.3842T>G变异可能是该婴儿癫痫和发育障碍患儿的致病原因.
Objective To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders.Methods Clinical data and peripheral blood samples of the child and his parents were collected.The coding regions of genes associated with nervous system development were subjected to target region capture sequencing.Results The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age.He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age.A novel heterozygous c.3842T>G variant of the SYNE1 gene was detected.His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies.Conclusion A novel variant of SYNE1 gene was identified in this child,and the prognosis may be poor.
作者
张鑫丽
沈学萍
潘黎明
戚峰峰
沈国松
Zhang Xinli;Shen Xueping;Pan Liming;Qi Fengfeng;Shen Guosong(Huzhou Maternity and Child Health Care Hospital,Huzhou,Zhejiang 313000,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第11期1111-1114,共4页
Chinese Journal of Medical Genetics
基金
浙江省医药卫生科研基金(2017KY647).
