Efficient targeted next generation sequencing-based workflow for differential diagnosis of Alport-related disorders

Gábor Kovács, Tibor Kalmár, E. Endreffy, Zoltán Ondrik, B. Iványi, Csaba Rikker, I. Haszon, S. Túri, Mária Sinkó, C. Bereczki, Zoltán Maróti

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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 We successfully identified mutations in all investigated cases, including 14 unpublished mutations in our Hungarian cohort.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.

Original languageEnglish
Article numbere0149241
JournalPLoS One
Volume11
Issue number3
DOIs
Publication statusPublished - Mar 1 2016

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Hereditary Nephritis
Workflow
Differential Diagnosis
Genes
kidney diseases
mutation
Proteinuria
Mutation
Chronic Kidney Failure
Collagen Type IV
Biopsy
Terminology
child development
hematuria
terminology
Hematuria
renal failure
Life Expectancy
molecular genetics
signs and symptoms (animals and humans)

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Efficient targeted next generation sequencing-based workflow for differential diagnosis of Alport-related disorders. / Kovács, Gábor; Kalmár, Tibor; Endreffy, E.; Ondrik, Zoltán; Iványi, B.; Rikker, Csaba; Haszon, I.; Túri, S.; Sinkó, Mária; Bereczki, C.; Maróti, Zoltán.

In: PLoS One, Vol. 11, No. 3, e0149241, 01.03.2016.

Research output: Contribution to journalArticle

Kovács, Gábor ; Kalmár, Tibor ; Endreffy, E. ; Ondrik, Zoltán ; Iványi, B. ; Rikker, Csaba ; Haszon, I. ; Túri, S. ; Sinkó, Mária ; Bereczki, C. ; Maróti, Zoltán. / Efficient targeted next generation sequencing-based workflow for differential diagnosis of Alport-related disorders. In: PLoS One. 2016 ; Vol. 11, No. 3.
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