Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.
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.
Vollmer
M
M
Department of Pediatrics, Children's University Hospital, Freiburg, Germany.
Jeck
N
N
Lemmink
H H
HH
Vargas
R
R
Feldmann
D
D
Konrad
M
M
Beekmann
F
F
van Den Heuvel
L P
LP
Deschenes
G
G
Guay-Woodford
L M
LM
Antignac
C
C
Seyberth
H W
HW
Hildebrandt
F
F
Knoers
N V
NV
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
D005819:Genetic Markers