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Nephrotic syndrome and mitochondrial disorders: answers

  • Julie Bernardor
  • Camille Faudeux
  • Anabelle Chaussenot
  • Corinne Antignac
  • Alice Goldenberg
  • Marie Claire Gubler
  • Nicole Wagner
  • Etienne BérardEmail author
Clinical Quiz
  • 29 Downloads

Answers

In 2015, new genetic analysis in our patient (Pr C. Antignac – Institut IMAGINE – Paris) by next-generation sequencing (MiSeq® Illumina®) after multiplex PCR (FSGS MASTR-V3 Multiplicom®) explored 30 genes responsible for cortico-resistant nephrotic syndromes (NS). Three pathogenic mutations in NPHS1 were found: (1) the formerly detected c.2014g>A (p.Ala672Thr) and two additional mutations of maternal inheritance: (2) a missense mutation c.1555C<T (p.Pro519ser); and (3) a splice site mutation in intron 15 (c.2072-6C>G). No mutations were found in other analyzed genes (in particular, genes encoding mitochondrial proteins: COQ2, COQ6, ADCK4/COQ8B, and PDSS2). Thus, the NS of our patient seems to be of the Finnish type (CNF).

Discussion

In Finland, nearly 90% of congenital NS cases are CNF with a heavy symptomatology in early life, and two mutations of NPHS1 are found: Fin Major (p.L41fsX91) or Fin Minor(p.R1109X). These mutations are rarely found in patients of non-Finnish...

Keywords

Child Mitochondrial disorder Cardiomyopathy Congenital nephrotic syndrome (CNF) NPHS1 mutation 

Notes

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Copyright information

© IPNA 2019

Authors and Affiliations

  • Julie Bernardor
    • 1
  • Camille Faudeux
    • 1
  • Anabelle Chaussenot
    • 2
  • Corinne Antignac
    • 3
    • 4
  • Alice Goldenberg
    • 5
  • Marie Claire Gubler
    • 3
  • Nicole Wagner
    • 6
  • Etienne Bérard
    • 1
    Email author
  1. 1.Unité de néphrologie pédiatriqueCHU de Nice - Hôpital ArchetNice Cedex 3France
  2. 2.Service de génétique médicaleCHU de Nice - Hôpital Archet 2Nice Cedex 3France
  3. 3.Laboratoire des maladies rénales héréditaires 1 - INSERM UMR S1163Institut ImagineParisFrance
  4. 4.Department of Genetics, Reference center for Hereditary Kidney Diseases (MARHEA), Assistance Publique - Hôpitaux de ParisNecker HospitalParisFrance
  5. 5.Unité de génétique clinique - CHU de RouenRouen CedexFrance
  6. 6.CNRS, INSERM, iBVUniversité Côte d’AzurNiceFrance

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