A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl Syndrome in the Faroe Islands
Background/Aim: Bardet-Biedl syndrome is a multi-organ disease presenting with retinitis pigmentosa leading to blindness. The aim of the study was to investigate the genetic background of Bardet-Biedl syndrome in the Faroe Island. We hypothesised that a common genetic background for the syndrome wou...
Published in: | British Journal of Ophthalmology |
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fthighwire:oai:open-archive.highwire.org:bjophthalmol:bjo.2007.131110v1 2023-05-15T16:10:33+02:00 A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl Syndrome in the Faroe Islands Hjortshøj, Tina Duelund Grønskov, Karen Brøndum-Nielsen, Karen Rosenberg, Thomas 2008-07-31 02:56:11.0 text/html http://bjo.bmj.com/cgi/content/short/bjo.2007.131110v1 https://doi.org/10.1136/bjo.2007.131110 en eng BMJ Publishing Group Ltd http://bjo.bmj.com/cgi/content/short/bjo.2007.131110v1 http://dx.doi.org/10.1136/bjo.2007.131110 Copyright (C) 2008, BMJ Publishing Group Ltd Original article - Laboratory Science TEXT 2008 fthighwire https://doi.org/10.1136/bjo.2007.131110 2015-02-28T15:11:02Z Background/Aim: Bardet-Biedl syndrome is a multi-organ disease presenting with retinitis pigmentosa leading to blindness. The aim of the study was to investigate the genetic background of Bardet-Biedl syndrome in the Faroe Island. We hypothesised that a common genetic background for the syndrome would be found. Methods: Patients were identified from the files of the Retinitis Pigmentosa Register at the National Eye Clinic, Denmark. The diagnosis of Bardet-Biedl syndrome was verified from medical files. Mutational screening of BBS1, BBS2, BBS4, BBS5, MKKS, and BBS10 was done by denaturing high performance liquid chromatography. Results: Out of 13 prevalent cases in the Faroe Islands 10 patients from nine families were included. We identified a novel splice site mutation in BBS1, c.1091+3G>C, predicted to affect protein function by skipping of 16 amino acids. Nine patients were homozygous for this mutation while one patient was compound heterozygous with a recurrent BBS1 mutation, p.Met390Arg. The patients presented with severe ophthalmic phenotypes while the systemic manifestations of the disease were apparently milder. Conclusion: We identified a novel BBS1 mutation, most probably a founder mutation, further confirming the Faroe Islands as a genetic isolate. The phenotypic expression of the Faroese patients suggests that different mutations in BBS1 affect various organs differently. Text Faroe Islands HighWire Press (Stanford University) Faroe Islands British Journal of Ophthalmology 93 3 409 413 |
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Open Polar |
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HighWire Press (Stanford University) |
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fthighwire |
language |
English |
topic |
Original article - Laboratory Science |
spellingShingle |
Original article - Laboratory Science Hjortshøj, Tina Duelund Grønskov, Karen Brøndum-Nielsen, Karen Rosenberg, Thomas A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl Syndrome in the Faroe Islands |
topic_facet |
Original article - Laboratory Science |
description |
Background/Aim: Bardet-Biedl syndrome is a multi-organ disease presenting with retinitis pigmentosa leading to blindness. The aim of the study was to investigate the genetic background of Bardet-Biedl syndrome in the Faroe Island. We hypothesised that a common genetic background for the syndrome would be found. Methods: Patients were identified from the files of the Retinitis Pigmentosa Register at the National Eye Clinic, Denmark. The diagnosis of Bardet-Biedl syndrome was verified from medical files. Mutational screening of BBS1, BBS2, BBS4, BBS5, MKKS, and BBS10 was done by denaturing high performance liquid chromatography. Results: Out of 13 prevalent cases in the Faroe Islands 10 patients from nine families were included. We identified a novel splice site mutation in BBS1, c.1091+3G>C, predicted to affect protein function by skipping of 16 amino acids. Nine patients were homozygous for this mutation while one patient was compound heterozygous with a recurrent BBS1 mutation, p.Met390Arg. The patients presented with severe ophthalmic phenotypes while the systemic manifestations of the disease were apparently milder. Conclusion: We identified a novel BBS1 mutation, most probably a founder mutation, further confirming the Faroe Islands as a genetic isolate. The phenotypic expression of the Faroese patients suggests that different mutations in BBS1 affect various organs differently. |
format |
Text |
author |
Hjortshøj, Tina Duelund Grønskov, Karen Brøndum-Nielsen, Karen Rosenberg, Thomas |
author_facet |
Hjortshøj, Tina Duelund Grønskov, Karen Brøndum-Nielsen, Karen Rosenberg, Thomas |
author_sort |
Hjortshøj, Tina Duelund |
title |
A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl Syndrome in the Faroe Islands |
title_short |
A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl Syndrome in the Faroe Islands |
title_full |
A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl Syndrome in the Faroe Islands |
title_fullStr |
A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl Syndrome in the Faroe Islands |
title_full_unstemmed |
A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl Syndrome in the Faroe Islands |
title_sort |
novel founder bbs1 mutation explains a unique high prevalence of bardet-biedl syndrome in the faroe islands |
publisher |
BMJ Publishing Group Ltd |
publishDate |
2008 |
url |
http://bjo.bmj.com/cgi/content/short/bjo.2007.131110v1 https://doi.org/10.1136/bjo.2007.131110 |
geographic |
Faroe Islands |
geographic_facet |
Faroe Islands |
genre |
Faroe Islands |
genre_facet |
Faroe Islands |
op_relation |
http://bjo.bmj.com/cgi/content/short/bjo.2007.131110v1 http://dx.doi.org/10.1136/bjo.2007.131110 |
op_rights |
Copyright (C) 2008, BMJ Publishing Group Ltd |
op_doi |
https://doi.org/10.1136/bjo.2007.131110 |
container_title |
British Journal of Ophthalmology |
container_volume |
93 |
container_issue |
3 |
container_start_page |
409 |
op_container_end_page |
413 |
_version_ |
1765995725742669824 |