Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity

Andreas Gal; Brunhilde Wirth; Helena Kääriäinen; Gerard Lucotte; Paul Landais; Gabriele Gillessen‐Kaesbach; Dirk E. Müller‐Wiefel; Klaus Zerres

doi:10.1111/j.1399-0004.1989.tb02900.x

Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity

Andreas Gal, Brunhilde Wirth, Helena Kääriäinen, Gerard Lucotte, Paul Landais, Gabriele Gillessen‐Kaesbach, Dirk E. Müller‐Wiefel, Klaus Zerres

Institute of Human Genetics

29 Citations (Scopus)

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried out with a cloned DNA sequence from the alphaglobin locus known to be closely linked to the disease gene in adult onset ADPKD. In the families studied here, close linkage (θ_max= 0.09 at Z_max= 2.32) was also observed between the marker and disease loci. These results provide no evidence for genetic heterogeneity of ADPKD in families with early and adult onset.

Original language	English
Journal	Clinical Genetics
Volume	35
Issue number	1
Pages (from-to)	13-19
Number of pages	7
ISSN	0009-9163
DOIs	https://doi.org/10.1111/j.1399-0004.1989.tb02900.x
Publication status	Published - 01.1989

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10.1111/j.1399-0004.1989.tb02900.x

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title = "Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity",

abstract = "Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried out with a cloned DNA sequence from the alphaglobin locus known to be closely linked to the disease gene in adult onset ADPKD. In the families studied here, close linkage (θmax= 0.09 at Zmax= 2.32) was also observed between the marker and disease loci. These results provide no evidence for genetic heterogeneity of ADPKD in families with early and adult onset.",

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T1 - Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity

AU - Gal, Andreas

AU - Wirth, Brunhilde

AU - Kääriäinen, Helena

AU - Lucotte, Gerard

AU - Landais, Paul

AU - Gillessen‐Kaesbach, Gabriele

AU - Müller‐Wiefel, Dirk E.

AU - Zerres, Klaus

PY - 1989/1

Y1 - 1989/1

N2 - Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried out with a cloned DNA sequence from the alphaglobin locus known to be closely linked to the disease gene in adult onset ADPKD. In the families studied here, close linkage (θmax= 0.09 at Zmax= 2.32) was also observed between the marker and disease loci. These results provide no evidence for genetic heterogeneity of ADPKD in families with early and adult onset.

AB - Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried out with a cloned DNA sequence from the alphaglobin locus known to be closely linked to the disease gene in adult onset ADPKD. In the families studied here, close linkage (θmax= 0.09 at Zmax= 2.32) was also observed between the marker and disease loci. These results provide no evidence for genetic heterogeneity of ADPKD in families with early and adult onset.

UR - https://www.scopus.com/pages/publications/0024496180

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DO - 10.1111/j.1399-0004.1989.tb02900.x

M3 - Journal articles

C2 - 2924430

AN - SCOPUS:0024496180

SN - 0009-9163

VL - 35

SP - 13

EP - 19

JO - Clinical Genetics

JF - Clinical Genetics

IS - 1

ER -

Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity

Abstract

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