GENETIC DIAGNOSIS OF A LETHAL FORM OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

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MIRZAJANI SARA; MOHEBI MEHDI; MIRYOUNESI MOHAMMAD; YASSAEE VAHID REZA; GHAFOURI FARD SOUDEH

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Journal Paper

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Journal: Journal of Pediatric Perspectives Year:2018 | Volume:6 | Issue:2 (50) Page(s): 7033-7037

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Title

GENETIC DIAGNOSIS OF A LETHAL FORM OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Author(s)

Keywords

ARPKD

GENE

MUTATION

Abstract

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 inPKHD1 GENE (NM_170724, c.9107T>G, p.V3036G).Conclusion: Unlike previous studies which showed the association between missense MUTATIONs ofPKHD1 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.

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APA: Copy

MIRZAJANI, SARA, MOHEBI, MEHDI, MIRYOUNESI, MOHAMMAD, YASSAEE, VAHID REZA, & GHAFOURI FARD, SOUDEH. (2018). GENETIC DIAGNOSIS OF A LETHAL FORM OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE. INTERNATIONAL JOURNAL OF PEDIATRICS, 6(2 (50)), 7033-7037. SID. https://sid.ir/paper/337381/en

Vancouver: Copy

MIRZAJANI SARA, MOHEBI MEHDI, MIRYOUNESI MOHAMMAD, YASSAEE VAHID REZA, GHAFOURI FARD SOUDEH. GENETIC DIAGNOSIS OF A LETHAL FORM OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE. INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2018;6(2 (50)):7033-7037. Available from: https://sid.ir/paper/337381/en

IEEE: Copy

SARA MIRZAJANI, MEHDI MOHEBI, MOHAMMAD MIRYOUNESI, VAHID REZA YASSAEE, and SOUDEH GHAFOURI FARD, “GENETIC DIAGNOSIS OF A LETHAL FORM OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE,” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 6, no. 2 (50), pp. 7033–7037, 2018, [Online]. Available: https://sid.ir/paper/337381/en

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