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.
- uniparental disomy
- clinical genetics
- movement disorders (other than parkinsons)
- renal medicine
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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.
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