Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease | ||
| Journal of Pediatric Perspectives | ||
| مقاله 3، دوره 6، شماره 2 - شماره پیاپی 50، اردیبهشت 2018، صفحه 7033-7037 اصل مقاله (368.83 K) | ||
| نوع مقاله: case report | ||
| شناسه دیجیتال (DOI): 10.22038/ijp.2017.27282.2352 | ||
| نویسندگان | ||
| Sara Mirzajani1؛ Mehdi Mohebi2؛ Mohammad Miryounesi2؛ Vahid Reza Yassaee2؛ Soudeh Ghafouri-Fard* 1 | ||
| 1Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. | ||
| 2Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. | ||
| چکیده | ||
| Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were heterozygote for a missense mutation in PKHD1 gene (NM_170724, c.9107T>G, p.V3036G). Conclusion Unlike previous studies which showed the association between missense mutations of PKHD1 gene and mild phenotype of ARPKD, we have demonstrated the presence of a certain heterozygote missense mutation in parents of a patient affected with lethal form of disorder. Such phenotypic variations should be considered in genetic counseling of families especially those seeking prenatal diagnosis. | ||
| کلیدواژهها | ||
| ARPKD؛ Gene؛ Mutation | ||
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آمار تعداد مشاهده مقاله: 932 تعداد دریافت فایل اصل مقاله: 697 |
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