PMID: 12761252May 23, 2003Paper

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

Journal of the American Society of Nephrology : JASN
Rainer G RufFriedhelm Hildebrandt

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.

References

Jan 1, 1991·Human Genetics·L P Ten KateJ G van Lookeren Campagne
Jan 1, 1985·Cytogenetics and Cell Genetics·P M ConneallyR White
Mar 31, 2000·Nature Genetics·S Somlo, P Mundel
Feb 7, 2001·Journal of the American Society of Nephrology : JASN·Arno FuchshuberFriedhelm Hildebrandt
Nov 22, 2002·Journal of the American Society of Nephrology : JASN·Martin R Pollak

❮ Previous
Next ❯

Citations

Sep 14, 2006·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Akiko KitamuraToshio Doi
Oct 19, 2007·Clinical Journal of the American Society of Nephrology : CJASN·Martin R PollakJoel M Henderson

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.