Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
محل انتشار: مجله بین المللی کودکان، دوره: 7، شماره: 10
سال انتشار: 1398
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 339
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شناسه ملی سند علمی:
JR_INJPM-7-10_013
تاریخ نمایه سازی: 20 مهر 1398
چکیده مقاله:
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.
کلیدواژه ها:
نویسندگان
Leandros Lazaros
Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece.
Danai Palaiologou
Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece.
Amelia Pantou
Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece.
Chaido Koumanzeli
Neonatal Intensive Care Unit, ۲nd Department of Pediatrics, Athens University Medical School, P. & A. Kyriakou Children’s Hospital of Athens, Athens, Greece.