scholarly journals Do the MEFV gene mutations increase in patients with autosomal dominant polycystic kidney disease? Preliminary analysis

2020 ◽  
Vol 11 (4) ◽  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Preliminary Analysis ◽  
Autosomal Dominant ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals SP036THE FREQUENCY OF MEFV GENE MUTATIONS IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE PATIENTS

2015 ◽  
Vol 30 (suppl_3) ◽  
pp. iii392-iii392
Author(s):  
Alpaslan Altunoglu ◽  
Cemalledin Ozturk ◽  
Sukran Erten ◽  
Orhan Kucuksahin ◽  
Ozlem Yoruk Yayar ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals Identification of Novel Nonsense Mutations in Iranian patients suffering from autosomal dominant polycystic kidney disease

2019 ◽  
Author(s):  
Fatemeh Khadangi ◽  
Adam Torkamanzehi ◽  
Mohammad Amin Kerachian
Keyword(s):  
Kidney Disease ◽  
Genetic Analysis ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Molecular Genetic Analysis ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Iranian Patients

Abstract Background: Autosomal dominant polycystic kidney disease (ADPKD) is the predominant type of inherited kidney disorder, which occurs due to PKD1 and PKD2 gene mutations. ADPKD diagnosis is made primarily by kidney imaging; however, molecular genetic analysis needs to be implicated to confirm the diagnosis. It is critical to perform a molecular genetic analysis when the diagnosis is uncertain, particularly in simplex cases (i.e., a single occurrence in a family), in people with remarkably mild symptoms, or in individuals with atypical presentations. The main aim of this study is to determine the likelihood of PKD1 gene mutations in Iranian patients with ADPKD diagnosis. Methods: Genomic DNA was isolated from blood samples from 26 ADPKD patients, who were referred to the Qaem Hospital in Mashhad, Iran. By using suitable primers, 16 end exons of PKD1 gene that are regional hotspots, were replicated with PCR. Then, PCR products were subjected to DNA directional Sanger sequencing.Results: The results of DNA sequencing in the patients showed that exons 35, 36 and 37 were non- polymorphic, while most mutations had occurred in exons 44 and 45. Only in two patients, exon-intron boundary mutation had occurred in intron 44. Most of the variants were missense and non-synonymous types. Conclusion: In this study, we present nine novel mutations/polymorphisms in PKD1. These data will contribute to an improved diagnostic and genetic counseling in clinical settings. Keywords: Autosomal dominant polycystic kidney disease; PKD1; mutational analysis; Iranian

scholarly journals Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Fatemeh Khadangi ◽  
Adam Torkamanzehi ◽  
Mohammad Amin Kerachian
Keyword(s):  
Kidney Disease ◽  
Genetic Analysis ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Molecular Genetic Analysis ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Iranian Patients

Abstract Background Autosomal dominant polycystic kidney disease (ADPKD), the predominant type of inherited kidney disorder, occurs due to PKD1 and PKD2 gene mutations. ADPKD diagnosis is made primarily by kidney imaging. However, molecular genetic analysis is required to confirm the diagnosis. It is critical to perform a molecular genetic analysis when the imaging diagnosis is uncertain, particularly in simplex cases (i.e. a single occurrence in a family), in people with remarkably mild symptoms, or in individuals with atypical presentations. The main aim of this study is to determine the frequency of PKD1 gene mutations in Iranian patients with ADPKD diagnosis. Methods Genomic DNA was extracted from blood samples from 22 ADPKD patients, who were referred to the Qaem Hospital in Mashhad, Iran. By using appropriate primers, 16 end exons of PKD1 gene that are regional hotspots, were replicated with PCR. Then, PCR products were subjected to DNA directional Sanger sequencing. Results The DNA sequencing in the patients has shown that exons 35, 36 and 37 were non- polymorphic, and that most mutations had occurred in exons 44 and 45. In two patients, an exon-intron boundary mutation had occurred in intron 44. Most of the variants were missense and synonymous types. Conclusion In the present study, we have shown the occurrence of nine novel missense or synonymous variants in PKD1 gene. These data could contribute to an improved diagnostic and genetic counseling in clinical settings.

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