title: Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.
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.
  
  
  CONCLUSIONS
  We thereby confirmed this gene locus and distinguished this clinical subtype from other variants of Bartter syndrome as a new disease entity.
authors.affiliation: Department of Pediatrics, Children's University Hospital, Freiburg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Vollmer
authors.forename: N
authors.initials: N
authors.lastname: Jeck
authors.forename: H H
authors.initials: HH
authors.lastname: Lemmink
authors.forename: R
authors.initials: R
authors.lastname: Vargas
authors.forename: D
authors.initials: D
authors.lastname: Feldmann
authors.forename: M
authors.initials: M
authors.lastname: Konrad
authors.forename: F
authors.initials: F
authors.lastname: Beekmann
authors.forename: L P
authors.initials: LP
authors.lastname: van Den Heuvel
authors.forename: G
authors.initials: G
authors.lastname: Deschenes
authors.forename: L M
authors.initials: LM
authors.lastname: Guay-Woodford
authors.forename: C
authors.initials: C
authors.lastname: Antignac
authors.forename: H W
authors.initials: HW
authors.lastname: Seyberth
authors.forename: F
authors.initials: F
authors.lastname: Hildebrandt
authors.forename: N V
authors.initials: NV
authors.lastname: Knoers
mesh_terms: D001477:Bartter Syndrome / Q000150:complications / Q000196:embryology* / Q000235:genetics*; D002503:Centromere / Q000235:genetics; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005333:Fetus / Q000502:physiology; D005819:Genetic Markers; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D011995:Recombination, Genetic
chemical_list: D005819:Genetic Markers