Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden

Retinal degenerations represent a heterogeneous group of disorders affecting the function of the retina. The frequency of retinitis pigmentosa (RP) is 1/3500 worldwide, however, in northern Sweden it is 1/2000 due to limited migration and a ‘founder’ effect. In this study we identified genetic mecha...

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Main Authors: Golovleva, Irina, Köhn, Linda, Burstedt, Marie, Daiger, Stephen, Sandgren, Ola
Format: Text
Language:English
Published: 2010
Subjects:
Article
Northern Sweden
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113316
http://www.ncbi.nlm.nih.gov/pubmed/20238024
https://doi.org/10.1007/978-1-4419-1399-9_29
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spelling ftpubmed:oai:pubmedcentral.nih.gov:4113316 2023-05-15T17:44:00+02:00 Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden Golovleva, Irina Köhn, Linda Burstedt, Marie Daiger, Stephen Sandgren, Ola 2010 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113316 http://www.ncbi.nlm.nih.gov/pubmed/20238024 https://doi.org/10.1007/978-1-4419-1399-9_29 en eng http://www.ncbi.nlm.nih.gov/pmc/articles/PMC http://www.ncbi.nlm.nih.gov/pubmed/20238024 http://dx.doi.org/10.1007/978-1-4419-1399-9_29 © Springer Science+Business Media, LLC 2010 Article Text 2010 ftpubmed https://doi.org/10.1007/978-1-4419-1399-9_29 2014-08-03T01:18:47Z Retinal degenerations represent a heterogeneous group of disorders affecting the function of the retina. The frequency of retinitis pigmentosa (RP) is 1/3500 worldwide, however, in northern Sweden it is 1/2000 due to limited migration and a ‘founder’ effect. In this study we identified genetic mechanisms underlying autosomal dominant and recessive RP present in northern Sweden. Several novel mutations unique for this region were found. In an autosomal recessive form of RP, Bothnia dystrophy caused by mutations in the RLBP1 gene, bi-allelic mutations R234W, M226K and compound heterozygosity, M226K+R234W was detected. Text Northern Sweden PubMed Central (PMC) 255 262
institution Open Polar
collection PubMed Central (PMC)
op_collection_id ftpubmed
language English
topic Article
spellingShingle Article
Golovleva, Irina
Köhn, Linda
Burstedt, Marie
Daiger, Stephen
Sandgren, Ola
Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden
topic_facet Article
description Retinal degenerations represent a heterogeneous group of disorders affecting the function of the retina. The frequency of retinitis pigmentosa (RP) is 1/3500 worldwide, however, in northern Sweden it is 1/2000 due to limited migration and a ‘founder’ effect. In this study we identified genetic mechanisms underlying autosomal dominant and recessive RP present in northern Sweden. Several novel mutations unique for this region were found. In an autosomal recessive form of RP, Bothnia dystrophy caused by mutations in the RLBP1 gene, bi-allelic mutations R234W, M226K and compound heterozygosity, M226K+R234W was detected.
format Text
author Golovleva, Irina
Köhn, Linda
Burstedt, Marie
Daiger, Stephen
Sandgren, Ola
author_facet Golovleva, Irina
Köhn, Linda
Burstedt, Marie
Daiger, Stephen
Sandgren, Ola
author_sort Golovleva, Irina
title Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden
title_short Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden
title_full Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden
title_fullStr Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden
title_full_unstemmed Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden
title_sort mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern sweden
publishDate 2010
url http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113316
http://www.ncbi.nlm.nih.gov/pubmed/20238024
https://doi.org/10.1007/978-1-4419-1399-9_29
genre Northern Sweden
genre_facet Northern Sweden
op_relation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC
http://www.ncbi.nlm.nih.gov/pubmed/20238024
http://dx.doi.org/10.1007/978-1-4419-1399-9_29
op_rights © Springer Science+Business Media, LLC 2010
op_doi https://doi.org/10.1007/978-1-4419-1399-9_29
container_start_page 255
op_container_end_page 262
_version_ 1766146169684099072

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