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

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 (θ = 0) for marker D14S1025 and a two-point LOD score of Z max = 3.46 (θ = 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. E-mail: fhilde@umich.edu