Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy
- M Losekoot1,
- C A L Ruivenkamp1,
- A P Tholens1,
- J E M A Grimbergen1,
- L Vijfhuizen1,
- S Vermeer2,
- H B Dijkman3,
- E A M Cornelissen4,
- E M H F Bongers2,
- D J M Peters5
- 1LDGA-Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands
- 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
- 3Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
- 4Department of Pediatric Nephrology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
- 5Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands
- 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
-
Contributors All authors included on the paper fulfil the criteria of authorship because of their substantial contribution to analysis, interpretation or manuscript preparation.
- Received 25 August 2011
- Revised 6 October 2011
- Accepted 24 October 2011
- Published Online First 23 November 2011
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
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.
