Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy

J Med Genet. 2012 Jan;49(1):37-40. doi: 10.1136/jmedgenet-2011-100452. Epub 2011 Nov 23.

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.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA Mutational Analysis
  • Homozygote*
  • Humans
  • Infant, Newborn
  • Kidney / pathology
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Pedigree
  • Polycystic Kidney, Autosomal Dominant / diagnostic imaging*
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Receptors, Cell Surface / genetics
  • TRPP Cation Channels / genetics*
  • Ultrasonography
  • Uniparental Disomy*

Substances

  • PKHD1 protein, human
  • Receptors, Cell Surface
  • TRPP Cation Channels
  • polycystic kidney disease 2 protein