March 3, 2026Open Access

Novel compound heterozygous PKHD1 mutations in a Chinese ARPKD pedigree and analysis of genotype-phenotype correlations

Key Points

Novel pkhd1 mutations expand the known pathogenic gene spectrum in arpkd.
Insights into genotype-phenotype correlations reveal potential organ-specific thresholds for disease manifestation.
Assessment of genetic data provides valuable information for future prenatal diagnosis efforts.
Study contributes to better understanding of arpkd characteristics in mutation carriers.

Abstract

This study uncovered novel PKHD1 mutations in an ARPKD patient, expanding the pathogenic gene spectrum of ARPKD and providing insights for genetic counseling and prenatal diagnosis. Our findings also contribute to the understanding of genotype-phenotype correlations in PKHD1 mutation carriers and generate hypotheses regarding potential organ-specific thresholds for disease manifestation.

Novel compound heterozygous PKHD1 mutations in a Chinese ARPKD pedigree and analysis of genotype-phenotype correlations

Key Points

Abstract

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