Phenotype and genetic analysis of three patients with PKHD1 associated autosomal recessive polycystic kidney disease at childhood, teenage and advanced age
10.3760/cma.j.issn.1003-9406.2019.12.001
- VernacularTitle: PKHD1基因变异相关的三例儿童期、青少年期及老年期常染色体隐性多囊肾患者的表型及遗传学分析
- Author:
Qinghua WU
1
;
Can WANG
;
Saisai YANG
;
Huirong SHI
;
Xiyang MA
;
Xiangdong KONG
;
Shumin REN
;
Zhihui JIAO
;
Yiwen ZHAI
Author Information
1. Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052 , China
- Publication Type:Journal Article
- Keywords:
Polycystic kidney;
Next generation sequencing;
PKHD1 gene;
Autosomal recessive polycystic kidney disease;
Gene variant;
Genetic counseling
- From:
Chinese Journal of Medical Genetics
2019;36(12):1153-1157
- CountryChina
- Language:Chinese
-
Abstract:
Objective:The phenotype and genetics of three patients with autosomal recessive polycystic kidney disease (ARPKD) at childhood, teenage and advanced age were analyzed.
Methods: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.
Results: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.
Conclusion: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.
