Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease | ||
| Journal of Pediatric Perspectives | ||
| مقاله 13، دوره 7، شماره 10 - شماره پیاپی 70، دی 2019، صفحه 10291-10297 اصل مقاله (407.8 K) | ||
| شناسه دیجیتال (DOI): 10.22038/ijp.2019.42674.3576 | ||
| نویسندگان | ||
| Leandros Lazaros1؛ Danai Palaiologou1؛ Amelia Pantou1؛ Chaido Koumanzeli2؛ Ioannis Kapetanakis2؛ Emmanouel Kanavakis* 1 | ||
| 1Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece. | ||
| 2Neonatal Intensive Care Unit, 2nd Department of Pediatrics, Athens University Medical School, 'P. & A. Kyriakou' Children’s Hospital of Athens, Athens, Greece. | ||
| چکیده | ||
| 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. | ||
| کلیدواژهها | ||
| Genetic diagnosis؛ Next-generation sequencing؛ PKHD1؛ Polycystic kidney disease | ||
|
آمار تعداد مشاهده مقاله: 658 تعداد دریافت فایل اصل مقاله: 443 |
||