Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
نویسندگان
1 Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
2 Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3 Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4 Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
5 Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran
doi
10.22038/ijp.2017.27282.2352چکیده
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.
