| Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. | |
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MedLine Citation:
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PMID: 20738377 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD. METHODS: Sequencing of the two genes and search for large rearrangements was performed in 46 unrelated patients with suspected LD, 33 originating from France and the others from different countries. Patients were classified into two groups according to the clinical presentation. RESULTS: Mutations of various types were found in EPM2A in 10 patients and in NHLRC1 in 4 patients. Mutations were found in 14 (93%) of 15 patients with classical clinical and electroencephalography (EEG) presentation of LD and in no patients with an atypical presentation. Ten mutations were novel, including the first substitution reported in a donor splice site of EPM2A, leading to the deletion of exon 2 at the RNA level. Four large deletions, including two deletions of exon 2 with different sizes and breakpoints, were found in EPM2A, corresponding to 20% of the alleles of this gene. DISCUSSION: We described several novel mutations of EPM2A and NHLRC1 and brought additional data to the genetic epidemiology of LD. This study emphasized the high mutation rate in patients with classical LD as well as the high negativity rate of skin biopsy. |
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Authors:
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Gaetan Lesca; Nadia Boutry-Kryza; Bertrand de Toffol; Mathieu Milh; Dominique Steschenko; Martine Lemesle-Martin; Louis Maillard; Giovanni Foletti; Gabrielle Rudolf; Jørgen Erik Nielsen; Bjarke á Rogvi-Hansen; Jesper Erdal; Josette Mancini; Christel Thauvin-Robinet; Amel M'Rrabet; Dorothée Ville; Pierre Szepetowski; Emmanuel Raffo; Edouard Hirsch; Philippe Ryvlin; Alain Calender; Pierre Genton |
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Publication Detail:
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Type: Comparative Study; Journal Article Date: 2010-08-05 |
Journal Detail:
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Title: Epilepsia Volume: 51 ISSN: 1528-1167 ISO Abbreviation: Epilepsia Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-09-13 Completed Date: 2010-10-15 Revised Date: 2010-12-17 |
Medline Journal Info:
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Nlm Unique ID: 2983306R Medline TA: Epilepsia Country: United States |
Other Details:
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Languages: eng Pagination: 1691-8 Citation Subset: IM |
Affiliation:
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Service de génétique, hospices civils de Lyon et université Claude Bernard Lyon I, Lyon, France. gaetan.lesca@chu-lyon.fr |
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Biopsy Carrier Proteins / genetics* Exons / genetics Female Genetic Markers / genetics Humans Lafora Disease / diagnosis, genetics*, pathology Male Microsatellite Repeats / genetics Mutation / genetics* Pedigree Protein Tyrosine Phosphatases, Non-Receptor / genetics* Skin / pathology |
| Chemical | |
Reg. No./Substance:
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0/Carrier Proteins; 0/Genetic Markers; 0/NHLRC1 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatases, Non-Receptor; EC 3.1.3.48./EPM2A protein, human |
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