Telomeric refinement of the MCKD1 locus on chromosome 1q21

Matthias T.F. Wolf; Bruno Van Vlem; Hans C. Hennies; Isabella Zalewski; Stephanie M. Karle; Markus Puetz; Franziska Panther; Edgar Otto; Arno Fuchshuber; Norbert Lameire; Bart Loeys; Friedhelm Hildebrandt

doi:10.1111/j.1523-1755.2004.00799.x

Telomeric refinement of the MCKD1 locus on chromosome 1q21

Matthias T.F. Wolf, Bruno Van Vlem, Hans C. Hennies, Isabella Zalewski, Stephanie M. Karle, Markus Puetz, Franziska Panther, Edgar Otto, Arno Fuchshuber, Norbert Lameire, Bart Loeys, Friedhelm Hildebrandt

Research output: Contribution to journal › Article › peer-review

21 Citations (Scopus)

Abstract

Background. Autosomal-dominant medullary cystic kidney disease type 1 (MCKD1) is a tubulointerstitial nephropathy that causes renal salt wasting and end-stage renal failure in the sixth decade of life. The chromosomal locus for MCKD1 was localized to chromosome 1q21 in a Cyprotic kindred. In this report we describe further refinement of the critical genetic region by a recombination in a Belgian kindred. Methods. Clinical data and blood samples of 33 individuals from a large Belgian kindred were collected and high-resolution haplotype analysis was performed. Results. In the Belgian kindred linkage to the MCKD1 locus on chromosme 1q21 was found with a logarithm of odds (LOD) score significant for linkage. A recombination in individual III:7 for marker D1S2624 refines the critical genetic region to 2.1 Mb. In this kindred a wide variety of clincial symptoms and age of onset of renal failure was detected. Conclusion. We confirm the MCKD1 locus on chromosome 1q21 and show further refinement of the MCKD1 locus to 2.1 Mb. This allowed us to exclude another 17 genes as positional candidate genes.

Original language	English
Pages (from-to)	580-585
Number of pages	6
Journal	Kidney International
Volume	66
Issue number	2
DOIs	https://doi.org/10.1111/j.1523-1755.2004.00799.x
Publication status	Published - 1 Aug 2004
Externally published	Yes

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title = "Telomeric refinement of the MCKD1 locus on chromosome 1q21",

abstract = "Background. Autosomal-dominant medullary cystic kidney disease type 1 (MCKD1) is a tubulointerstitial nephropathy that causes renal salt wasting and end-stage renal failure in the sixth decade of life. The chromosomal locus for MCKD1 was localized to chromosome 1q21 in a Cyprotic kindred. In this report we describe further refinement of the critical genetic region by a recombination in a Belgian kindred. Methods. Clinical data and blood samples of 33 individuals from a large Belgian kindred were collected and high-resolution haplotype analysis was performed. Results. In the Belgian kindred linkage to the MCKD1 locus on chromosme 1q21 was found with a logarithm of odds (LOD) score significant for linkage. A recombination in individual III:7 for marker D1S2624 refines the critical genetic region to 2.1 Mb. In this kindred a wide variety of clincial symptoms and age of onset of renal failure was detected. Conclusion. We confirm the MCKD1 locus on chromosome 1q21 and show further refinement of the MCKD1 locus to 2.1 Mb. This allowed us to exclude another 17 genes as positional candidate genes.",

keywords = "Haplotype analysis, MCKD1, Recombination",

author = "Wolf, {Matthias T.F.} and {Van Vlem}, Bruno and Hennies, {Hans C.} and Isabella Zalewski and Karle, {Stephanie M.} and Markus Puetz and Franziska Panther and Edgar Otto and Arno Fuchshuber and Norbert Lameire and Bart Loeys and Friedhelm Hildebrandt",

year = "2004",

month = aug,

day = "1",

doi = "10.1111/j.1523-1755.2004.00799.x",

language = "English",

volume = "66",

pages = "580--585",

journal = "Kidney International",

issn = "0085-2538",

publisher = "Nature Publishing Group",

number = "2",

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TY - JOUR

T1 - Telomeric refinement of the MCKD1 locus on chromosome 1q21

AU - Wolf, Matthias T.F.

AU - Van Vlem, Bruno

AU - Hennies, Hans C.

AU - Zalewski, Isabella

AU - Karle, Stephanie M.

AU - Puetz, Markus

AU - Panther, Franziska

AU - Otto, Edgar

AU - Fuchshuber, Arno

AU - Lameire, Norbert

AU - Loeys, Bart

AU - Hildebrandt, Friedhelm

PY - 2004/8/1

Y1 - 2004/8/1

N2 - Background. Autosomal-dominant medullary cystic kidney disease type 1 (MCKD1) is a tubulointerstitial nephropathy that causes renal salt wasting and end-stage renal failure in the sixth decade of life. The chromosomal locus for MCKD1 was localized to chromosome 1q21 in a Cyprotic kindred. In this report we describe further refinement of the critical genetic region by a recombination in a Belgian kindred. Methods. Clinical data and blood samples of 33 individuals from a large Belgian kindred were collected and high-resolution haplotype analysis was performed. Results. In the Belgian kindred linkage to the MCKD1 locus on chromosme 1q21 was found with a logarithm of odds (LOD) score significant for linkage. A recombination in individual III:7 for marker D1S2624 refines the critical genetic region to 2.1 Mb. In this kindred a wide variety of clincial symptoms and age of onset of renal failure was detected. Conclusion. We confirm the MCKD1 locus on chromosome 1q21 and show further refinement of the MCKD1 locus to 2.1 Mb. This allowed us to exclude another 17 genes as positional candidate genes.

AB - Background. Autosomal-dominant medullary cystic kidney disease type 1 (MCKD1) is a tubulointerstitial nephropathy that causes renal salt wasting and end-stage renal failure in the sixth decade of life. The chromosomal locus for MCKD1 was localized to chromosome 1q21 in a Cyprotic kindred. In this report we describe further refinement of the critical genetic region by a recombination in a Belgian kindred. Methods. Clinical data and blood samples of 33 individuals from a large Belgian kindred were collected and high-resolution haplotype analysis was performed. Results. In the Belgian kindred linkage to the MCKD1 locus on chromosme 1q21 was found with a logarithm of odds (LOD) score significant for linkage. A recombination in individual III:7 for marker D1S2624 refines the critical genetic region to 2.1 Mb. In this kindred a wide variety of clincial symptoms and age of onset of renal failure was detected. Conclusion. We confirm the MCKD1 locus on chromosome 1q21 and show further refinement of the MCKD1 locus to 2.1 Mb. This allowed us to exclude another 17 genes as positional candidate genes.

KW - Haplotype analysis

KW - MCKD1

KW - Recombination

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U2 - 10.1111/j.1523-1755.2004.00799.x

DO - 10.1111/j.1523-1755.2004.00799.x

M3 - Article

C2 - 15253709

AN - SCOPUS:3242755074

VL - 66

SP - 580

EP - 585

JO - Kidney International

JF - Kidney International

SN - 0085-2538

IS - 2

ER -

Telomeric refinement of the MCKD1 locus on chromosome 1q21

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