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Genotype-phenotype correlations
Communications
Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy
  1. M Losekoot1,
  2. C A L Ruivenkamp1,
  3. A P Tholens1,
  4. J E M A Grimbergen1,
  5. L Vijfhuizen1,
  6. S Vermeer2,
  7. H B Dijkman3,
  8. E A M Cornelissen4,
  9. E M H F Bongers2,
  10. D J M Peters5
  1. 1LDGA-Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands
  2. 2Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
  3. 3Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
  4. 4Department of Pediatric Nephrology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
  5. 5Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands
  1. Correspondence to Dr D J M Peters, Department of Human Genetics, Leiden University Medical Centre, Einthovenweg 20, Postbus 9600, Leiden 2300RC, the Netherlands; d.j.m.peters{at}lumc.nl

Abstract

Autosomal dominant polycystic kidney disease (ADPKD), due to a heterozygous mutation in PKD1 or PKD2, is usually an adult onset disease. Renal cystic disease is generally milder in PKD2 patients than in PKD1 patients. Recently, several PKD1 patients with a severe renal cystic phenotype due to a second modifying PKD1 allele, or carrying two incomplete penetrant PKD1 alleles, have been described. This study reports for the first time a patient with neonatal onset of PKD homozygous for an incomplete penetrant PKD2 missense variant due to uniparental disomy.

  • ADPKD
  • PKD2
  • uniparental disomy
  • homozygosity
  • aneuploidy
  • chromosomal
  • clinical genetics
  • copy-number
  • genetics
  • movement disorders (other than parkinsons)
  • neurology
  • renal medicine

https://doi.org/10.1136/jmedgenet-2011-100452

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    Footnotes

    • Competing interests None.

    • Patient consent Obtained.

    • Ethics approval The analysis was performed as a diagnostic request.

    • Provenance and peer review Not commissioned; externally peer reviewed.