标题：一个罕见黏多糖贮积症Ⅲ型家系的诊断及产前诊断

      作者：潘丽 1，苏文 2，林道彬 1    珠海市妇幼保健院产前诊断中心 1、检验科/遗传所 2，广东 珠海 519000

      卷次： 2020年31卷15期

      【摘要】 目的 明确一个罕见黏多糖贮积症Ⅲ型家系的致病原因，并进行产前诊断。方法 首先用全外显子测序技术对2019年7月就诊于珠海市妇幼保健院的先证者及其家系成员进行致病突变检测，然后用Sanger测序进行验证，最后抽取羊水，对胎儿进行产前诊断。结果 先证者携带SGSH基因c.703G>A(p.Asp235Asn)纯合突变，其父母均为杂合突变携带者，胎儿为杂合突变携带者。结论 SGSH基因 c.703G>A(p.Asp 235Asn)突变是该黏多糖贮积症Ⅲ型家系的致病原因，可以根据该突变进行产前诊断，避免该家系再次出生黏多糖贮积症Ⅲ型患儿。
      【关键词】 黏多糖贮积症Ⅲ型；全外显子测序；产前诊断；Sanger测序；携带者
      【中图分类号】 R394 【文献标识码】 A 【文章编号】 1003—6350（2020）15—1941—04

Diagnosis and prenatal diagnosis of a rare mucopolysaccharidosis typeⅢ family.
PAN Li 1, SU Wen 2, LIN Dao-bin 1.Prenatal Diagnosis Center 1, Department of Clinical Laboratory/Genetic Institute 2, Zhuhai Maternal and Child HealthHospital, Zhuhai 519000, Guangdong, CHINA
【Abstract】 Objective To determine the cause of pathogenesis in a rare family of mucopolysaccharidosis typeⅢ and to make prenatal diagnosis. Methods First, the proband and family members who visited Zhuhai Maternal andChild Health Hospital in July 2019 were tested by whole exon sequencing, and then Sanger sequencing was used to veri-fy the mutation. Finally, amniotic fluid was extracted for prenatal diagnosis. Results The proband carried homozygousmutation of SGSH gene c.703G>A(p.Asp235Asn), and both of his parents were carriers of heterozygous mutation. Thefetus was a carrier of heterozygous mutation. Conclusion The mutation of SGSH gene c.703G>A(p.Asp235Asn) is thepathogenic cause of the mucopolysaccharidosis type Ⅲ family. Prenatal diagnosis can be made according to the muta-tion, in order to avoid the re-birth of mucopolysaccharidosis typeⅢ children.
      【Key words】 Mucopolysaccharidosis type Ⅲ; Whole exome sequencing; Prenatal diagnosis; Sanger sequencing;Carrier