TY - JOUR ID - 9615 TI - Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease JO - International Journal of Pediatrics JA - IJP LA - en SN - 2345-5047 AU - Mirzajani, Sara AU - Mohebi, Mehdi AU - Miryounesi, Mohammad AU - Yassaee, Vahid Reza AU - Ghafouri-Fard, Soudeh AD - Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. AD - Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Y1 - 2018 PY - 2018 VL - 6 IS - 2 SP - 7033 EP - 7037 KW - ARPKD KW - Gene KW - Mutation DO - 10.22038/ijp.2017.27282.2352 N2 - BackgroundAutosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease.Case ReportIn 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).ConclusionUnlike 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. UR - https://ijp.mums.ac.ir/article_9615.html L1 - https://ijp.mums.ac.ir/article_9615_0d87b49e106519e19afdf8eff49ec100.pdf ER -