Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

Please always quote using this URN: urn:nbn:de:bvb:20-opus-139920
  • Background: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. Methods: We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers. Results: Thirteen patients from 6 non-related families were included. Age of onset was 18.8 +/- 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central SwitzerlandBackground: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. Methods: We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers. Results: Thirteen patients from 6 non-related families were included. Age of onset was 18.8 +/- 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations were identified (c.2869C>T (p.Gln957Stop), c.5928G>A (p.Trp1976Stop)). Conclusions: Our study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2T>C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c.3031 + 2T>C) suggested a possible founder effect.show moreshow less

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Metadaten
Author: Jens A. Petersen, Thierry Kuntzer, Dirk Fischer, Maja von der Hagen, Angela Veronika, Johannes A. Lobrinus, Wolfram Kress, Elisabeth J. Rushing, Michael Sinnreich, Hans H. Jung
URN:urn:nbn:de:bvb:20-opus-139920
Document Type:Journal article
Faculties:Medizinische Fakultät / Institut für Humangenetik
Language:English
Parent Title (English):BMC Neurology
Year of Completion:2015
Volume:15
Issue:182
Source:BMC Neurology (2015) 15:182. DOI 10.1186/s12883-015-0449-3
DOI:https://doi.org/10.1186/s12883-015-0449-3
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 611 Menschliche Anatomie, Zytologie, Histologie
Tag:2B; deficiency; features; gene mutations; gridle muscular-dystrophy; heterogeneity; italian patients; membrane repair; miyoshi myopathy; molecular analysis
Release Date:2016/11/04
Licence (German):License LogoCC BY: Creative-Commons-Lizenz: Namensnennung