| ERCC6 founder mutation identified in Finnish patients with COFS syndrome. | |
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MedLine Citation:
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PMID: 20456449 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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. |
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Authors:
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E Jaakkola; A Mustonen; P Olsen; S Miettinen; T Savuoja; A Raams; N G J Jaspers; H Shao; B L Wu; J Ignatius |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 78 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-11-03 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 541-7 Citation Subset: IM |
Copyright Information:
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© 2010 John Wiley & Sons A/S. |
Affiliation:
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Department of Clinical Genetics, Oulu University Hospital, University of Oulu, Oulu, Finland. elisa.jaakkola@ppshp.fi |
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