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Nephrol Dial Transplant (2000) 15: 970-974
© 2000 European Renal Association-European Dialysis and Transplant Association

Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31

Martin Vollmer1,, Nikola Jeck2,, Henny H. Lemmink3, Rosa Vargas4, Delphine Feldmann5, Martin Konrad2, Frank Beekmann1, Lambertus P. W. J. van den Heuvel3, Georges Deschenes5, Lisa M. Guay-Woodford6, Corinne Antignac4, Hannsjörg W. Seyberth2, Friedhelm Hildebrandt1 and Nine V. A. M. Knoers3,

1 Department of Pediatrics, Children's University Hospital, Freiburg, 2 Department of Pediatrics, Children's University Hospital, Marburg, Germany, 3 Department of Pediatrics and Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands, 4 INSERM U423, Necker Hospital, University Paris 5, Paris, 5 Departments of Biochemistry and Pediatric Nephrology, Armand Trousseau Hospital, Paris, France and 6 Department of Medicine and Pediatrics, University of Alabama, Birmingham, Alabama, USA

Background. Recently a locus for antenatal Bartter syndrome associated with sensorineural deafness was mapped to human chromosome 1p31 in a single consanguineous Bedouin family (Brennan et al. Am J Hum Genet 1998; 62: 355–361).

Methods. By haplotype analysis we demonstrate linkage to this locus in nine consanguineous families with antenatal Bartter syndrome associated with sensorineural deafness.

Results. The critical interval compatible with linkage was refined to 4.0 cM by two novel recombinational events with markers D1S2661 and D1S475.

Conclusion. We thereby confirmed this gene locus and distinguished this clinical subtype from other variants of Bartter syndrome as a new disease entity.

Keywords: antenatal Bartter syndrome; chromosome 1p31; deafness; haplotype analysis

Correspondence and offprint requests to: Dr Nine V. A. M. Knoers, Department of Human Genetics, University of Nijmegen, PO Box 9101, NL 6500 HB Nijmegen, The Netherlands.

* Both authors contributed equally to this study.


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