Paper Information

Journal:   INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE   SPRING 2016 , Volume 5 , Number 2; Page(s) 123 To 124.
 
Paper: 

LETTER TO THE EDITOR: A NOVEL PKD1 MUTATION IN A PATIENT WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

 
 
Author(s):  JAMSHIDI JAVAD, NADERI HAMED, TAGHAVI SHAGHAYEGH, EMAMALIZADEH BABAK, DARVISH HOSSEIN*
 
* DEPARTMENT OF MEDICAL GENETICS, SCHOOL OF MEDICINE, SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES, TEHRAN, IRAN
 
Abstract: 

reporting novel mutations in genes related to human disorders along with their clinical complications can help prenatal diagnosis of the diseases through molecular genetic tests and also make it possible to predict the prognosis of the disease to some extends and consequently, the improved disease management. Herein we report a novel mutation inPKD1 gene, which results in autosomal dominant polycystic kidney disease (APKD), one of the commonest severe renal disorders. The pathogenicde novo mutations of this gene have been reported to be about 10% of APKD cases.

 
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