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 consanguin...

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Published inJournal 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
LanguageEnglish
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
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Summary: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.
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ISSN:1046-6673
1533-3450
DOI:10.1097/01.asn.0000066141.55735.8d