ERCC6 founder mutation identified in Finnish patients with COFS syndrome
Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers NGJ, Shao H, Wu BL, Ignatius J. ERCC6 founder mutation identified in Finnish patients with COFS syndrome. Cerebro‐oculo‐facio‐skeletal (COFS) syndrome is an autosomal recessive disorder characterized by microcephaly, congenita...
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crwiley:10.1111/j.1399-0004.2010.01424.x 2024-09-15T18:25:38+00:00 ERCC6 founder mutation identified in Finnish patients with COFS syndrome Jaakkola, E Mustonen, A Olsen, P Miettinen, S Savuoja, T Raams, A Jaspers, NGJ Shao, H Wu, BL Ignatius, J 2010 http://dx.doi.org/10.1111/j.1399-0004.2010.01424.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2010.01424.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2010.01424.x en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor Clinical Genetics volume 78, issue 6, page 541-547 ISSN 0009-9163 1399-0004 journal-article 2010 crwiley https://doi.org/10.1111/j.1399-0004.2010.01424.x 2024-06-27T04:19:47Z Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers NGJ, Shao H, Wu BL, Ignatius J. ERCC6 founder mutation identified in Finnish patients with COFS syndrome. Cerebro‐oculo‐facio‐skeletal (COFS) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. We report a large consanguineous pedigree from northern Finland with six individuals belonging into four different sibships and affected with typical COFS syndrome phenotype. Two deceased patients have been published previously in 1982 as the first cases exhibiting cerebral calcifications typical for this disorder. Two living and one of the deceased patients were all shown to possess a novel homozygous mutation in the ERCC6 [Cockayne syndrome B (CSB)] gene, thereby confirming the diagnosis on molecular genetic level even for the earlier published cases. Genealogical investigation showed a common ancestor living in a northeastern village in Finland in the 18th century for all six patients implying a founder effect. Article in Journal/Newspaper Northern Finland Wiley Online Library Clinical Genetics 78 6 541 547 |
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Open Polar |
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Wiley Online Library |
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crwiley |
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English |
description |
Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers NGJ, Shao H, Wu BL, Ignatius J. ERCC6 founder mutation identified in Finnish patients with COFS syndrome. Cerebro‐oculo‐facio‐skeletal (COFS) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. We report a large consanguineous pedigree from northern Finland with six individuals belonging into four different sibships and affected with typical COFS syndrome phenotype. Two deceased patients have been published previously in 1982 as the first cases exhibiting cerebral calcifications typical for this disorder. Two living and one of the deceased patients were all shown to possess a novel homozygous mutation in the ERCC6 [Cockayne syndrome B (CSB)] gene, thereby confirming the diagnosis on molecular genetic level even for the earlier published cases. Genealogical investigation showed a common ancestor living in a northeastern village in Finland in the 18th century for all six patients implying a founder effect. |
format |
Article in Journal/Newspaper |
author |
Jaakkola, E Mustonen, A Olsen, P Miettinen, S Savuoja, T Raams, A Jaspers, NGJ Shao, H Wu, BL Ignatius, J |
spellingShingle |
Jaakkola, E Mustonen, A Olsen, P Miettinen, S Savuoja, T Raams, A Jaspers, NGJ Shao, H Wu, BL Ignatius, J ERCC6 founder mutation identified in Finnish patients with COFS syndrome |
author_facet |
Jaakkola, E Mustonen, A Olsen, P Miettinen, S Savuoja, T Raams, A Jaspers, NGJ Shao, H Wu, BL Ignatius, J |
author_sort |
Jaakkola, E |
title |
ERCC6 founder mutation identified in Finnish patients with COFS syndrome |
title_short |
ERCC6 founder mutation identified in Finnish patients with COFS syndrome |
title_full |
ERCC6 founder mutation identified in Finnish patients with COFS syndrome |
title_fullStr |
ERCC6 founder mutation identified in Finnish patients with COFS syndrome |
title_full_unstemmed |
ERCC6 founder mutation identified in Finnish patients with COFS syndrome |
title_sort |
ercc6 founder mutation identified in finnish patients with cofs syndrome |
publisher |
Wiley |
publishDate |
2010 |
url |
http://dx.doi.org/10.1111/j.1399-0004.2010.01424.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2010.01424.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2010.01424.x |
genre |
Northern Finland |
genre_facet |
Northern Finland |
op_source |
Clinical Genetics volume 78, issue 6, page 541-547 ISSN 0009-9163 1399-0004 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1111/j.1399-0004.2010.01424.x |
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Clinical Genetics |
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78 |
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6 |
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541 |
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547 |
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1810466134580789248 |