A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2.
Steroid-resistant nephrotic syndrome (SRNS) leads to end-stage renal disease (ESRD) in childhood or young adulthood. Positional cloning for genes causing SRNS has opened the first insights into the understanding of its pathogenesis. This study reports a genome-wide search for linkage in a consanguineous Palestinian kindred with SRNS and deafness and detection of a region of homozygosity on chromosome 14q24.2. Multipoint analysis of 12 markers used for further fine mapping resulted in a LOD score Z(max) of 4.12 (theta = 0) for marker D14S1025 and a two-point LOD score of Z(max) = 3.46 (theta = 0) for marker D14S77. Lack of homozygosity defined D14S1065 and D14S273 as flanking markers to a 10.7 cM interval. The identification of the responsible gene will provide new insights into the molecular basis of nephrotic syndrome and sensorineural deafness.
Ruf
Rainer G
RG
Department of Pediatrics, University of Michigan, Ann Arbor, 48109, USA.
Wolf
Matthias T F
MT
Hennies
Hans C
HC
Lucke
Barbara
B
Zinn
Christina
C
Varnholt
Verena
V
Lichtenberger
Anne
A
Pasch
Andreas
A
Imm
Anita
A
Briese
Sonia
S
Lennert
Thomas
T
Fuchshuber
Arno
A
Nurnberg
Peter
P
Hildebrandt
Friedhelm
F
D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D004351:Drug Resistance / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D009404:Nephrotic Syndrome / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D013256:Steroids / Q000627:therapeutic use*
D005819:Genetic Markers; D013256:Steroids