سامانه مدیریت نشریات علمی دانشگاه علوم پزشکی مشهد

Lazaros, Leandros, Palaiologou, Danai, Pantou, Amelia, Koumanzeli, Chaido, Kapetanakis, Ioannis, Kanavakis, Emmanouel. (1398). Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease. , 7(10), 10291-10297. doi: 10.22038/ijp.2019.42674.3576
Leandros Lazaros; Danai Palaiologou; Amelia Pantou; Chaido Koumanzeli; Ioannis Kapetanakis; Emmanouel Kanavakis. "Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease". , 7, 10, 1398, 10291-10297. doi: 10.22038/ijp.2019.42674.3576
Lazaros, Leandros, Palaiologou, Danai, Pantou, Amelia, Koumanzeli, Chaido, Kapetanakis, Ioannis, Kanavakis, Emmanouel. (1398). 'Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease', , 7(10), pp. 10291-10297. doi: 10.22038/ijp.2019.42674.3576
Lazaros, Leandros, Palaiologou, Danai, Pantou, Amelia, Koumanzeli, Chaido, Kapetanakis, Ioannis, Kanavakis, Emmanouel. Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease. , 1398; 7(10): 10291-10297. doi: 10.22038/ijp.2019.42674.3576

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
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