A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2

J Am Soc Nephrol. 2003 Jun;14(6):1519-22. doi: 10.1097/01.asn.0000066141.55735.8d.

Abstract

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.

MeSH terms

  • Alleles
  • Child
  • Child, Preschool
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 14*
  • Drug Resistance / genetics
  • Female
  • Genetic Markers
  • Haplotypes
  • Hearing Loss, Sensorineural / genetics*
  • Homozygote
  • Humans
  • Infant
  • Lod Score
  • Male
  • Nephrotic Syndrome / drug therapy*
  • Nephrotic Syndrome / genetics*
  • Nephrotic Syndrome / physiopathology
  • Pedigree
  • Steroids / therapeutic use*

Substances

  • Genetic Markers
  • Steroids