摘要
目的对1例孕期超声检查提示肾脏异常的胎儿进行全外显子组测序,为其遗传咨询及产前干预提供依据。方法收集临床及影像学检查的结果,穿刺采集胎儿羊水样本,提取基因组DNA,进行全外显子组测序,对与胎儿临床表型相关的候选变异位点进行家系Sanger测序验证。结果孕期超声提示胎儿双肾增大、回声增强,肾内多发囊肿、羊水过少。全外显子组测序结果提示胎儿携带PKHD1基因存在两处既往未见报道的复合杂合变异c.5137G>T和c.2335_2336delCA,分别为无义变异和移码变异,均可能产生截短的PKHD1蛋白。上述变异分别遗传自胎儿的母亲和父亲。结论产前影像学检查结合遗传学检测诊断胎儿为常染色体隐性多囊肾。PKHD1基因复合杂合变异为胎儿的致病原因。上述结果为胎儿的临床干预以及家庭的再生育提供了依据。
Objective To explore the genetic basis for a fetus with renal abnormalities through whole exome sequencing and imaging examination.Methods Clinical data and result of medical imaging of the fetus was collected.Amniotic fluid sample was collected for the extraction of fetal DNA.Whole exome sequencing was carried out.Candidate variants were verified by Sanger sequencing.Results Prenatal ultrasonography showed that the fetus had bilateral enlargement of the kidneys with hyperechogenicity and diffuse renal cysts.Whole exome sequencing revealed that the fetus carried compound heterozygous variants of the PKHD1gene,namely c.5137G>T and c.2335_2336delCA,which were derived from its mother and father,respectively.Conclusion The fetus was diagnosed with autosomal recessive polycystic kidney disease through combined prenatal ultrasonography and whole exome sequencing.The compound heterozygous variants of the PKHD1 gene probably underlay the pathogenesis in the fetus.The results have enabled prenatal diagnosis and genetic counseling for its parents.
作者
陆英慧
刘惠丽
吴豪杰
刘浏
王天佑
Lu Yinghui;Liu Huili;Wu Haojie;Liu Liu;Wang Tianyou(Department of Ultrasonography,Zhumadian Central Hospital,Zhumadian,Henan 463000,China;Department of Ultrasonography,Zhengdong District of the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2021年第6期585-588,共4页
Chinese Journal of Medical Genetics
