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Pediatr Nephrol. 2019 May 3. doi: 10.1007/s00467-019-04266-y. [Epub ahead of print]

Inherited glomerular diseases in the gilded age of genomic advancements.

Author information

1
Department of Internal Medicine/ Nephrology, Yale University School of Medicine, New Haven, CT, USA.
2
Department of Pediatrics/ Nephrology, Yale University School of Medicine, New Haven, CT, USA. alda.tufro@yale.edu.
3
Department of Cell and Molecular Physiology, Yale University School of Medicine, New Haven, CT, USA. alda.tufro@yale.edu.

Abstract

The synchronized advent of high-throughput next-generation sequencing technology and knowledge of the human genome has rendered exponential contributions to our understanding of the pathophysiology of glomerular kidney diseases. A genetic diagnosis can now be made or confirmed in about two-thirds of the suspected inherited glomerular diseases. Next-generation sequencing is adept at identifying single nucleotide variations and small insertions or deletions that constitute majority of the disease-causing mutations. Description of the complete mutation spectrum in syndromic glomerulopathies may require the use of both sequencing and cytogenetic methods to detect large structural DNA variation in addition to single nucleotide changes. The enthusiastic application of genetic and genomic knowledge to inherited glomerular diseases has uncovered anticipated and unforeseen challenges mainly related to the biological interpretation of variants of uncertain significance and the limited benefit on clinical management for the individual patient when a diagnosis is obtained. To attain the ultimate goal of transforming clinical decision-making based on accurate genetic diagnosis using genomic information, these challenges need to be addressed. Till then, the glory of genomic medicine stands the test of time in this gilded age of genomic advancements.

KEYWORDS:

Gene panels; Genetic glomerulopathies; Whole exome sequencing

PMID:
31049720
DOI:
10.1007/s00467-019-04266-y

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