L1CAM基因检测诊断胎儿X连锁脑积水综合征一例

Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene

目的分析1例再发性胎儿先天性脑积水的遗传学原因.方法应用高通量测序技术对一例再发性先天性脑积水的胎儿进行L1CAM基因突变检测,对发现的致病突变进行Sanger测序验证,并对孕妇及家族成员应用高通量测序技术进行L1CAM基因突变检测.结果先证者胎儿L1CAM基因第14外显子存在c.1765T>C(p.Tyr589 His)致病突变,孕妇为携带者,家族成员均未检测出致病突变.结论对产前超声发现的再发性先天性脑积水的男性胎儿进行L1CAM基因变异检测,不仅有助于遗传学病因的明确,而且能够为进一步的遗传咨询和产前诊断提供依据.

Objective To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.Methods Next-generation sequencing was carried out for the fetus,the gravida and two of her sisters.Results The fetus was found to harbor a c.1765T>C(p.Tyr589 His)mutation in exon 14 of the L1CAM gene,which was derived from the gravida.Conclusion Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.