TY - JOUR ID - 13858 TI - Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease JO - International Journal of Pediatrics JA - IJP LA - en SN - 2345-5047 AU - Lazaros, Leandros AU - Palaiologou, Danai AU - Pantou, Amelia AU - Koumanzeli, Chaido AU - Kapetanakis, Ioannis AU - Kanavakis, Emmanouel AD - Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece. AD - Neonatal Intensive Care Unit, 2nd Department of Pediatrics, Athens University Medical School, 'P. & A. Kyriakou' Children’s Hospital of Athens, Athens, Greece. Y1 - 2019 PY - 2019 VL - 7 IS - 10 SP - 10291 EP - 10297 KW - Genetic diagnosis KW - Next-generation sequencing KW - PKHD1 KW - Polycystic kidney Disease DO - 10.22038/ijp.2019.42674.3576 N2 - 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. UR - https://ijp.mums.ac.ir/article_13858.html L1 - https://ijp.mums.ac.ir/article_13858_04b1f026e3259f3390cf1056881f31c7.pdf ER -