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Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31
M Vollmer1, N Jeck, H H Lemmink
1Department of Pediatrics, Children's University Hospital, Freiburg, Germany.
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.