Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity

Michelle P. Winn, Peter J. Conlon, Kelvin L. Lynn, David N. Howell, Brandon D. Slotterbeck, Anne H. Smith, Felicia L. Graham, Marylou Bembe, Leigh Quarles, Margaret A. Pericak-Vance, Jeffery M. Vance

Research output: Contribution to journalArticle

108 Citations (Scopus)

Abstract

Focal segmental glomerulosclerosis (FSGS) is a pathological entity characterized by proteinuria, nephrotic syndrome, and the progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD). Recently, familial forms of FSGS have been identified. Two families with autosomal dominant FSGS were evaluated for linkage using 351 genomic microsatellite markers. Linkage, multipoint analysis, and tests for heterogeneity were performed on the subsequent results. In addition, three small families were used for haplotype analysis. Evidence for linkage was found on chromosome 11q21-q22 for the largest family, with a maximum lod score of 9.89. The gene is currently localized to an 18-cM area between flanking markers D11S2002 and D11S1986. The disease in a second family was not linked to this locus or to a previously described locus on chromosome 19q13. There were no shared haplotypes among affected individuals in the three smaller families. Our findings demonstrate that genetic heterogeneity is prevalent in FSGS in that at least three genes cause the FSGS phenotype. Identification of the genes that cause familial FSGS will provide valuable insights into the molecular basis and pathophysiology of FSGS.

Original languageEnglish (US)
Pages (from-to)113-120
Number of pages8
JournalGenomics
Volume58
Issue number2
DOIs
StatePublished - Jun 1 1999

Fingerprint

Focal Segmental Glomerulosclerosis
Chromosomes, Human, Pair 11
Genetic Heterogeneity
Genes
Haplotypes
Chromosomes
Lod Score
Nephrotic Syndrome
Proteinuria
Microsatellite Repeats
Chronic Kidney Failure
Phenotype
Kidney

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Winn, M. P., Conlon, P. J., Lynn, K. L., Howell, D. N., Slotterbeck, B. D., Smith, A. H., ... Vance, J. M. (1999). Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. Genomics, 58(2), 113-120. https://doi.org/10.1006/geno.1999.5828

Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. / Winn, Michelle P.; Conlon, Peter J.; Lynn, Kelvin L.; Howell, David N.; Slotterbeck, Brandon D.; Smith, Anne H.; Graham, Felicia L.; Bembe, Marylou; Quarles, Leigh; Pericak-Vance, Margaret A.; Vance, Jeffery M.

In: Genomics, Vol. 58, No. 2, 01.06.1999, p. 113-120.

Research output: Contribution to journalArticle

Winn, MP, Conlon, PJ, Lynn, KL, Howell, DN, Slotterbeck, BD, Smith, AH, Graham, FL, Bembe, M, Quarles, L, Pericak-Vance, MA & Vance, JM 1999, 'Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity', Genomics, vol. 58, no. 2, pp. 113-120. https://doi.org/10.1006/geno.1999.5828
Winn, Michelle P. ; Conlon, Peter J. ; Lynn, Kelvin L. ; Howell, David N. ; Slotterbeck, Brandon D. ; Smith, Anne H. ; Graham, Felicia L. ; Bembe, Marylou ; Quarles, Leigh ; Pericak-Vance, Margaret A. ; Vance, Jeffery M. / Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. In: Genomics. 1999 ; Vol. 58, No. 2. pp. 113-120.
@article{2f1412dee3df4d9bb0cf5ed531b044cb,
title = "Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity",
abstract = "Focal segmental glomerulosclerosis (FSGS) is a pathological entity characterized by proteinuria, nephrotic syndrome, and the progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD). Recently, familial forms of FSGS have been identified. Two families with autosomal dominant FSGS were evaluated for linkage using 351 genomic microsatellite markers. Linkage, multipoint analysis, and tests for heterogeneity were performed on the subsequent results. In addition, three small families were used for haplotype analysis. Evidence for linkage was found on chromosome 11q21-q22 for the largest family, with a maximum lod score of 9.89. The gene is currently localized to an 18-cM area between flanking markers D11S2002 and D11S1986. The disease in a second family was not linked to this locus or to a previously described locus on chromosome 19q13. There were no shared haplotypes among affected individuals in the three smaller families. Our findings demonstrate that genetic heterogeneity is prevalent in FSGS in that at least three genes cause the FSGS phenotype. Identification of the genes that cause familial FSGS will provide valuable insights into the molecular basis and pathophysiology of FSGS.",
author = "Winn, {Michelle P.} and Conlon, {Peter J.} and Lynn, {Kelvin L.} and Howell, {David N.} and Slotterbeck, {Brandon D.} and Smith, {Anne H.} and Graham, {Felicia L.} and Marylou Bembe and Leigh Quarles and Pericak-Vance, {Margaret A.} and Vance, {Jeffery M.}",
year = "1999",
month = "6",
day = "1",
doi = "10.1006/geno.1999.5828",
language = "English (US)",
volume = "58",
pages = "113--120",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "2",

}

TY - JOUR

T1 - Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity

AU - Winn, Michelle P.

AU - Conlon, Peter J.

AU - Lynn, Kelvin L.

AU - Howell, David N.

AU - Slotterbeck, Brandon D.

AU - Smith, Anne H.

AU - Graham, Felicia L.

AU - Bembe, Marylou

AU - Quarles, Leigh

AU - Pericak-Vance, Margaret A.

AU - Vance, Jeffery M.

PY - 1999/6/1

Y1 - 1999/6/1

N2 - Focal segmental glomerulosclerosis (FSGS) is a pathological entity characterized by proteinuria, nephrotic syndrome, and the progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD). Recently, familial forms of FSGS have been identified. Two families with autosomal dominant FSGS were evaluated for linkage using 351 genomic microsatellite markers. Linkage, multipoint analysis, and tests for heterogeneity were performed on the subsequent results. In addition, three small families were used for haplotype analysis. Evidence for linkage was found on chromosome 11q21-q22 for the largest family, with a maximum lod score of 9.89. The gene is currently localized to an 18-cM area between flanking markers D11S2002 and D11S1986. The disease in a second family was not linked to this locus or to a previously described locus on chromosome 19q13. There were no shared haplotypes among affected individuals in the three smaller families. Our findings demonstrate that genetic heterogeneity is prevalent in FSGS in that at least three genes cause the FSGS phenotype. Identification of the genes that cause familial FSGS will provide valuable insights into the molecular basis and pathophysiology of FSGS.

AB - Focal segmental glomerulosclerosis (FSGS) is a pathological entity characterized by proteinuria, nephrotic syndrome, and the progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD). Recently, familial forms of FSGS have been identified. Two families with autosomal dominant FSGS were evaluated for linkage using 351 genomic microsatellite markers. Linkage, multipoint analysis, and tests for heterogeneity were performed on the subsequent results. In addition, three small families were used for haplotype analysis. Evidence for linkage was found on chromosome 11q21-q22 for the largest family, with a maximum lod score of 9.89. The gene is currently localized to an 18-cM area between flanking markers D11S2002 and D11S1986. The disease in a second family was not linked to this locus or to a previously described locus on chromosome 19q13. There were no shared haplotypes among affected individuals in the three smaller families. Our findings demonstrate that genetic heterogeneity is prevalent in FSGS in that at least three genes cause the FSGS phenotype. Identification of the genes that cause familial FSGS will provide valuable insights into the molecular basis and pathophysiology of FSGS.

UR - http://www.scopus.com/inward/record.url?scp=0033152045&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033152045&partnerID=8YFLogxK

U2 - 10.1006/geno.1999.5828

DO - 10.1006/geno.1999.5828

M3 - Article

C2 - 10368108

AN - SCOPUS:0033152045

VL - 58

SP - 113

EP - 120

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 2

ER -