Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy
Copyright policy )Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy
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.
- Leiden University Netherlands
- Radboud University Nijmegen Netherlands
- Radboud University Nijmegen Medical Centre Netherlands
- Leiden University Medical Center Netherlands
Male, TRPP Cation Channels, Base Sequence, IGMD 9: Renal disorder, DNA Mutational Analysis, Homozygote, Molecular Sequence Data, Infant, Newborn, Mutation, Missense, Receptors, Cell Surface, Uniparental Disomy, Kidney, Polycystic Kidney, Autosomal Dominant, Pedigree, ONCOL 3: Translational research, Humans, Amino Acid Sequence, Ultrasonography
Male, TRPP Cation Channels, Base Sequence, IGMD 9: Renal disorder, DNA Mutational Analysis, Homozygote, Molecular Sequence Data, Infant, Newborn, Mutation, Missense, Receptors, Cell Surface, Uniparental Disomy, Kidney, Polycystic Kidney, Autosomal Dominant, Pedigree, ONCOL 3: Translational research, Humans, Amino Acid Sequence, Ultrasonography
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