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

Prenatal diagnosis - 1 Feb 2024

Zheng Yu, Wong Lo, Kwan Angel Hoi Wan, Dong Zirui, Kwok Ka Yin, Choy Kwong Wai, Dai Hongzheng, Cao Ye

Abstract excerpt

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 variants could lead to early-onset PKD. We report a non-consanguineous Chinese family with recurrent fetal polycystic...

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PMID: 37596871
DOI: 10.1002/pd.6419

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