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PLoS One. 2016 Mar 2;11(3):e0149241. doi: 10.1371/journal.pone.0149241. eCollection 2016.

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.

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University of Szeged, Faculty of Medicine, Department of Pediatrics and Pediatric Health Center, Szeged, Hungary.
University of Szeged, Faculty of Medicine, First Department of Internal Medicine, Szeged, Hungary.
University of Szeged, Faculty of Medicine, Department of Pathology, Szeged, Hungary.
Péterfy Sándor Hospital Department of Internal Medicine 1, Budapest, Hungary.


Alport syndrome (AS) is an inherited type IV collagen nephropathies characterized by microscopic hematuria during early childhood, the development of proteinuria and progression to end-stage renal disease. Since choosing the right therapy, even before the onset of proteinuria, can delay the onset of end-stage renal failure and improve life expectancy, the earliest possible differential diagnosis is desired. Practically, this means the identification of mutation(s) in COL4A3-A4-A5 genes. We used an efficient, next generation sequencing based workflow for simultaneous analysis of all three COL4A genes in three individuals and fourteen families involved by AS or showing different level of Alport-related symptoms. We successfully identified mutations in all investigated cases, including 14 unpublished mutations in our Hungarian cohort. We present an easy to use unified clinical/diagnostic terminology and workflow not only for X-linked but for autosomal AS, but also for Alport-related diseases. In families where a diagnosis has been established by molecular genetic analysis, the renal biopsy may be rendered unnecessary.

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