Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association

We describe the novel association in a girl of nephrotic syndrome due to focal segmental glomerulosclerosis, bilateral sensorineural deafness, basal ganglia calcification, bilateral retinopathy similar to that seen in Coats’ disease, with de novo duplication of a subtelomeric region of chromosome 4q...

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Detalles Bibliográficos
Autores principales: Reynolds, Ben C., Lemmers, Richard J. L. F., Tolmie, John, Howatson, Allan G., Hughes, David A.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2887537/
https://www.ncbi.nlm.nih.gov/pubmed/20191367
http://dx.doi.org/10.1007/s00467-010-1474-5
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author Reynolds, Ben C.
Lemmers, Richard J. L. F.
Tolmie, John
Howatson, Allan G.
Hughes, David A.
author_facet Reynolds, Ben C.
Lemmers, Richard J. L. F.
Tolmie, John
Howatson, Allan G.
Hughes, David A.
author_sort Reynolds, Ben C.
collection PubMed
description We describe the novel association in a girl of nephrotic syndrome due to focal segmental glomerulosclerosis, bilateral sensorineural deafness, basal ganglia calcification, bilateral retinopathy similar to that seen in Coats’ disease, with de novo duplication of a subtelomeric region of chromosome 4q35. The chromosomal duplication was identified during investigation of a possible association with features of fascio-scapulo-humeral dystrophy (FSHD). This duplication has not previously been reported with FSGS and adds to the expanding number of genetic associations with steroid-resistant nephrotic syndrome.
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spelling pubmed-28875372010-07-12 Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association Reynolds, Ben C. Lemmers, Richard J. L. F. Tolmie, John Howatson, Allan G. Hughes, David A. Pediatr Nephrol Brief Report We describe the novel association in a girl of nephrotic syndrome due to focal segmental glomerulosclerosis, bilateral sensorineural deafness, basal ganglia calcification, bilateral retinopathy similar to that seen in Coats’ disease, with de novo duplication of a subtelomeric region of chromosome 4q35. The chromosomal duplication was identified during investigation of a possible association with features of fascio-scapulo-humeral dystrophy (FSHD). This duplication has not previously been reported with FSGS and adds to the expanding number of genetic associations with steroid-resistant nephrotic syndrome. Springer-Verlag 2010-02-27 2010 /pmc/articles/PMC2887537/ /pubmed/20191367 http://dx.doi.org/10.1007/s00467-010-1474-5 Text en © The Author(s) 2010 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Brief Report
Reynolds, Ben C.
Lemmers, Richard J. L. F.
Tolmie, John
Howatson, Allan G.
Hughes, David A.
Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association
title Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association
title_full Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association
title_fullStr Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association
title_full_unstemmed Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association
title_short Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association
title_sort focal segmental glomerulosclerosis, coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2887537/
https://www.ncbi.nlm.nih.gov/pubmed/20191367
http://dx.doi.org/10.1007/s00467-010-1474-5
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