高通量测序技术在先天性脑积水基因诊断中的应用

目的：探讨二代测序法（NGS）在先天性脑积水基因诊断中的应用。方法：收集一个脑积水家系，根据其临床特点和遗传规律，自主设计候选基因面板，用NGS对该家系进行基因突变检测。结果：先证者（Ⅲ5）检测出L1CAM基因6号外显子突变c.551G＞A（p.Arg184Gln），未检测到AP1S2基因突变，其母亲（Ⅱ2）和2位姨妈（Ⅱ4和Ⅱ8）均为此突变携带者。结论：对于先天性脑积水胎儿，根据疾病的临床表型、遗传规律筛选可疑基因，进而设计基因面板，使用高通量测序进行快速检测，是明确病因、提高遗传病诊断效率的主要手段，有可能为这些家庭提供产前诊断和有效遗传咨询。

Application of Next Generation Sequencing in Gene Diagnosis of Congenital Hydrocephalus

Objective：To explore the application of next-generation sequencing in the gene diagnosis of congenital hydrocephalus. Methods：We collected a congenital hydrocephalus family, and designed the candidate gene panel according to the clinical characteristics and inheritance pattern. The next-generation sequencing was used to detect gene mutation. Results：L1CAM gene Exon6 mutation c.551G＞A(p.Arg184Gln) was detected in the proband. The proband′ mother and two aunts were c.551G＞A mutation carriers. Conclusions：For congenital hydrocephalus, the main strategy of genetic diagnosis is to screen the suspicious genes according to the clinical phenotype and genetic rules, and to design the gene panel for the next-generation sequencing. This strategy can quickly detect the genetic cause and improve the diagnostic efficiency. Prenatal diagnosis and effective genetic counseling may be provided for these families.