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- W2981802412 abstract "Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 genes were analyzed using next-generation sequencing, whereas the PKHD1 gene exon deletions/duplications were screened using multiplex ligation-dependent probe amplification. Results The c.2279G>A (p.Arg760His) mutation and a deletion encompassing exons 24-27 of PKHD1 gene were detected in compound heterozygosity in the affected neonate. The complete documentation of the genetic basis of the disease offered the possibility of a targeted prenatal diagnosis in the following pregnancy of the couple. Conclusion Given that the molecular analysis of ARPKD is mainly based on sequencing techniques, the PKHD1 gene exon deletion/duplication screening should be performed as a complementary assay in patients suspected to have ARPKD in the absence of two pathogenic mutations." @default.
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- W2981802412 date "2019-10-01" @default.
- W2981802412 modified "2023-09-23" @default.
- W2981802412 title "Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease" @default.
- W2981802412 doi "https://doi.org/10.22038/ijp.2019.42674.3576" @default.
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