Journal Article

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

Martin Vollmer, Nikola Jeck, Henny H. Lemmink, Rosa Vargas, Delphine Feldmann, Martin Konrad, Frank Beekmann, Lambertus P. W. J. van den Heuvel, Georges Deschenes, Lisa M. Guay‐Woodford, Corinne Antignac, Hannsjörg W. Seyberth, Friedhelm Hildebrandt and Nine V. A. M. Knoers

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 15, issue 7, pages 970-974
Published in print July 2000 | ISSN: 0931-0509
Published online July 2000 | e-ISSN: 1460-2385 | DOI: http://dx.doi.org/10.1093/ndt/15.7.970
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31

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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

Journal Article.  2632 words.  Illustrated.

Subjects: Nephrology

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