先证者
桑格测序
复合杂合度
遗传学
多囊性肾病
系谱图
产前诊断
多囊肾病
医学
遗传咨询
生物
表型
基因
DNA测序
突变
怀孕
肾
胎儿
作者
Qinghua Wu,Can Wang,Saisai Yang,Huirong Shi,Xiyang Ma,Xiangdong Kong,Shan Ren,Zhen Jiao,Yiwen Zhai
出处
期刊:PubMed
日期:2019-12-10
卷期号:36 (12): 1153-1157
标识
DOI:10.3760/cma.j.issn.1003-9406.2019.12.001
摘要
The phenotype and genetics of three patients with autosomal recessive polycystic kidney disease (ARPKD) at childhood, teenage and advanced age were analyzed.Next generation sequencing (NGS) was applied to all the probands. PCR and Sanger sequencing were used to verify the suspicious gene variants screened by NGS in the probands and their family members, and one of the family got prenatal diagnosis.Through NGS, PCR and Sanger sequencing, the 5-yr proband in pedigree 1 was shown to carry compound heterozygous variants of c.5935G>A(p.G1979R) and c.5428G>T(p.E1810X) of PKHD1, originated from his parents; In pedigree 2, the 17-ys proband was detected with c.5512T>C(p.Y1838H) and c.5935G>A(p.G1979R) variants of PKHD1 orginated from her parents, and her mother also got prenatal diagnosis during the second trimester; In pedigree 3, the 70-ys female proband was found with variants c.11314C>T (p.R3772X) and c.3860T>G (p.V1287G) of PKHD1.The three pedigrees were diagnosed as ARPKD caused by PKHD1 variants. Five types of variants were detected, c.5935G>A and c.11314C>T were the known pathogenic variants, while c.5512T>C, c.5428G>T and c.3860T>G were not reported previously. Considering the complexity of the genetics and phenotypes of the cystic renal diseases, genetic diagnosis is crucial to give accurate etiological diagnosis, which may benefit the clinic management.
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