Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation rapid communication

Roser Torra, Cèlia Badenas, Alejandro Darnell, Concepció Brú, Angels Escorsell, Xavier P. Estivill

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal hereditary disorder. Clinical expression of ADPKD shows interfamilial and intrafamilial variability. We screened for mutations the 3' region of the PKD1 gene, from exon 43 to exon 46, in a family showing anticipation and Caroli's disease and have found a 28 base pairs deletion in exon 46 (12801del28) and a new DNA variant in exon 43 (12184 C to G conserving Ala 3991) segregating with the disease. The mutation should result in a protein 44 amino acids longer than the wild-type PKD1. This PKD1 mutation manifests as typical adult-onset disease in the father, but in the proband, a 26-year- old man, ADPKD was diagnosed as a newborn and was associated with Caroli's disease at the age of 18 years. A renal biopsy performed in childhood disclosed a predominance of glomerular cysts. Mutation 12801del28 is the first molecular defect associated with Caroli's disease and the PKD1 phenotype. The finding of the same mutation in two different members of the same family with different expression of the disease indicates that the phenotypic variation in ADPKD must be due to modifying factors that may radically affect the course of the disease.

Original languageEnglish
Pages (from-to)33-38
Number of pages6
JournalKidney International
Volume52
Issue number1
Publication statusPublished - 1997
Externally publishedYes

Fingerprint

Caroli Disease
Autosomal Dominant Polycystic Kidney
Communication
Exons
Mutation
Kidney
Fathers
Base Pairing
Cysts
Newborn Infant
Phenotype
Biopsy
Amino Acids
DNA
Genes
Proteins

Keywords

  • ADPKD
  • Early onset
  • Glomerular cysts
  • Hepatic disease
  • Intrafamilial variability

ASJC Scopus subject areas

  • Nephrology

Cite this

Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation rapid communication. / Torra, Roser; Badenas, Cèlia; Darnell, Alejandro; Brú, Concepció; Escorsell, Angels; Estivill, Xavier P.

In: Kidney International, Vol. 52, No. 1, 1997, p. 33-38.

Research output: Contribution to journalArticle

Torra, Roser ; Badenas, Cèlia ; Darnell, Alejandro ; Brú, Concepció ; Escorsell, Angels ; Estivill, Xavier P. / Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation rapid communication. In: Kidney International. 1997 ; Vol. 52, No. 1. pp. 33-38.
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