title: Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.
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.
authors: LDGA-Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.
authors: M
authors: M
authors: Losekoot
authors: C A L
authors: CA
authors: Ruivenkamp
authors: A P
authors: AP
authors: Tholens
authors: J E M A
authors: JE
authors: Grimbergen
authors: L
authors: L
authors: Vijfhuizen
authors: S
authors: S
authors: Vermeer
authors: H B
authors: HB
authors: Dijkman
authors: E A M
authors: EA
authors: Cornelissen
authors: E M H F
authors: EM
authors: Bongers
authors: D J M
authors: DJ
authors: Peters
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000000981:diagnostic imaging* / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics; D050396:TRPP Cation Channels / Q000235:genetics*; D014463:Ultrasonography; D024182:Uniparental Disomy
chemical_list: D011956:Receptors, Cell Surface; D050396:TRPP Cation Channels; C451750:PKHD1 protein, human