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 journalArticle

19 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.

LanguageEnglish
Pages580-585
Number of pages6
JournalKidney International
Volume66
Issue number2
DOIs
Publication statusPublished - 1 Aug 2004
Externally publishedYes

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Chromosomes
Genetic Recombination
Age of Onset
Haplotypes
Genes
Chronic Kidney Failure
Renal Insufficiency
Medullary cystic kidney disease 1
Salts
Kidney

Cite this

Wolf, M. T. F., Van Vlem, B., Hennies, H. C., Zalewski, I., Karle, S. M., Puetz, M., ... Hildebrandt, F. (2004). Telomeric refinement of the MCKD1 locus on chromosome 1q21. Kidney International, 66(2), 580-585. https://doi.org/10.1111/j.1523-1755.2004.00799.x
Wolf, Matthias T.F. ; Van Vlem, Bruno ; Hennies, Hans C. ; Zalewski, Isabella ; Karle, Stephanie M. ; Puetz, Markus ; Panther, Franziska ; Otto, Edgar ; Fuchshuber, Arno ; Lameire, Norbert ; Loeys, Bart ; Hildebrandt, Friedhelm. / Telomeric refinement of the MCKD1 locus on chromosome 1q21. In: Kidney International. 2004 ; Vol. 66, No. 2. pp. 580-585.
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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.",
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Wolf, MTF, Van Vlem, B, Hennies, HC, Zalewski, I, Karle, SM, Puetz, M, Panther, F, Otto, E, Fuchshuber, A, Lameire, N, Loeys, B & Hildebrandt, F 2004, 'Telomeric refinement of the MCKD1 locus on chromosome 1q21', Kidney International, vol. 66, no. 2, pp. 580-585. https://doi.org/10.1111/j.1523-1755.2004.00799.x

Telomeric refinement of the MCKD1 locus on chromosome 1q21. / Wolf, Matthias T.F.; Van Vlem, Bruno; Hennies, Hans C.; Zalewski, Isabella; Karle, Stephanie M.; Puetz, Markus; Panther, Franziska; Otto, Edgar; Fuchshuber, Arno; Lameire, Norbert; Loeys, Bart; Hildebrandt, Friedhelm.

In: Kidney International, Vol. 66, No. 2, 01.08.2004, p. 580-585.

Research output: Contribution to journalArticle

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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.

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