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Original Paper

Inheritance of a Stable Mutation in a Family with Early-Onset Disease

Perrichot R.A.a,d · Mercier B.d · de Parscau L.c · Simon P.M.b · Cledes J.a · Ferec C.d

Author affiliations

Services de Néphrologie,aCHU Brest, bCH Saint-Brieuc, cService de Pédiatrie, CHU Brest, dLaboratoire de Génétique moléculaire, CHU Brest, France

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Nephron 2001;87:340–345

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: March 21, 2001
Issue release date: 2001

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 0

ISSN: 1660-8151 (Print)
eISSN: 2235-3186 (Online)

For additional information: https://www.karger.com/NEF

Abstract

Autosomal/dominant polycystic kidney disease (ADPKD) exhibits a high inter- and intrafamilial heterogeneity partly explained by the involvement of at least 3 different genes in the disorder transmission. PKD1, the major locus, is located on chromosome 16p. The occurrence of very early-onset cases of ADPKD (sometimes in utero) in a few PKD1 families or the increased severity of the disease in successive generations raise the question of anticipation. This is a subject of controversial discussion. This report deals with the molecular analysis in families with very early-onset ADPKD. The finding of the same stable mutation with such different phenotypes rules out a dynamic mutation. The molecular basis of severe childhood PKD in typical ADPKD families remains unclear; it may include segregation of modifying genes or unidentified factors and the two-hit mechanism.

© 2001 S. Karger AG, Basel


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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: March 21, 2001
Issue release date: 2001

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 0

ISSN: 1660-8151 (Print)
eISSN: 2235-3186 (Online)

For additional information: https://www.karger.com/NEF


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