Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene

• Published in: Prenatal diagnosis Vol. 44; no. 2; pp. 247 - 250
• Main Authors: Zheng, Yu, Wong, Lo, Kwan, Angel Hoi Wan, Dong, Zirui, Kwok, Ka Yin, Choy, Kwong Wai, Dai, Hongzheng, Cao, Ye
• Format: Report
• Language: English
• Published: 01.02.2024

Heterozygous loss-of-function variants in the PKD1 gene are commonly associated with adult-onset autosomal dominant polycystic kidney disease (ADPKD), where the formation of renal cysts depends on the dosage of the PKD1 gene. Biallelic null PKD1 variants are not viable, but biallelic hypomorphic var...