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

Nephrol Dial Transplant. 2000 Jul;15(7):970-4. doi: 10.1093/ndt/15.7.970.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bartter Syndrome / complications
  • Bartter Syndrome / embryology*
  • Bartter Syndrome / genetics*
  • Centromere / genetics
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 1 / genetics*
  • Consanguinity
  • Female
  • Fetus / physiology
  • Genetic Markers
  • Haplotypes
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Recombination, Genetic

Substances

  • Genetic Markers