Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD

Journal of Human Genetics
Shewata PanditaIshwar Chander Verma

Abstract

Autosomal Dominant Polycystic Kidney Disease (ADPKD) accounts for 2.6% of the patients with chronic kidney disease in India. ADPKD is caused by pathogenic variants in either PKD1 or PKD2 gene. There is no comprehensive genetic data from Indian subcontinent. We aimed to identify the pathogenic variants in the heterogeneous Indian population. PKD1 and PKD2 variants were identified by direct gene sequencing and/or multiplex ligation-dependent probe amplification (MLPA) in 125 unrelated patients of ADPKD. The pathogenic potential of the variants was evaluated computationally and were classified according to ACMG guidelines. Overall 300 variants were observed in PKD1 and PKD2 genes, of which 141 (47%) have been reported previously as benign. The remaining 159 variants were categorized into different classes based on their pathogenicity. Pathogenic variants were observed in 105 (84%) of 125 patients, of which 99 (94.3%) were linked to PKD1 gene and 6 (6.1%) to PKD2 gene. Of 159 variants, 97 were novel variants, of which 43 (44.33%) were pathogenic, and 10 (10.31%) were of uncertain significance. Our data demonstrate the diverse genotypic makeup of single gene disorders in India as compared to the West. These data would be valuable in...Continue Reading

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Citations

Feb 15, 2020·Indian Journal of Pediatrics·Veronica AroraIshwar Chander Verma
May 14, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ria SchönauerJan Halbritter

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Methods Mentioned

BETA
PCR
electrophoresis
Exome Sequencing

Software Mentioned

Ensembl
Genome Browsers
SPSS
CRISP
Alamut® Visual
UCSC
SeqScape®
Genkyst
Biosystems
Applied

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