Paper Information

Journal:   INTERNATIONAL JOURNAL OF PEDIATRICS   FEBRUARY 2018 , Volume 6 , Number 2 (50); Page(s) 7033 To 7037.
 
Paper: 

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

 
 
Author(s):  MIRZAJANI SARA, MOHEBI MEHDI, MIRYOUNESI MOHAMMAD, YASSAEE VAHID REZA, GHAFOURI FARD SOUDEH*
 
* DEPARTMENT OF MEDICAL GENETICS, SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES, TEHRAN, IRAN
 
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.

 
Keyword(s): ARPKD, GENE, MUTATION
 
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