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

• Published in: Journal of the American Society of Nephrology Vol. 14; no. 6; pp. 1519 - 1522
• Main Authors: RUF, Rainer G, WOLF, Matthias T. F, LENNERT, Thomas, FUCHSHUBER, Arno, NURNBERG, Peter, HILDEBRANDT, Friedhelm, HENNIES, Hans C, LUCKE, Barbara, ZINN, Christina, VARNHOLT, Verena, LICHTENBERGER, Anne, PASCH, Andreas, IMM, Anita, BRIESE, Sonia
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 01.06.2003
• Subjects: Alleles; Biological and medical sciences; 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; Medical sciences; Nephrology. Urinary tract diseases; Nephropathies. Renovascular diseases. Renal failure; Nephrotic Syndrome - drug therapy; Nephrotic Syndrome - genetics; Nephrotic Syndrome - physiopathology; Pedigree; Renal failure; Steroids - therapeutic use; Glomerulonephritis; Kidney disease; Human; Steroid; Treatment resistance; Urinary system disease; Chromosome; Nephrotic syndrome; Genetic determinism; Chemotherapy; Treatment; Gene; Renal failure; Complication
• DOI: 10.1097/01.asn.0000066141.55735.8d
• ISSN: 1046-6673

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.