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Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
Zitieren Sie bitte immer diese 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.…
Autor(en): | 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 |
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URN: | urn:nbn:de:bvb:20-opus-139920 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Medizinische Fakultät / Institut für Humangenetik |
Sprache der Veröffentlichung: | Englisch |
Titel des übergeordneten Werkes / der Zeitschrift (Englisch): | BMC Neurology |
Erscheinungsjahr: | 2015 |
Band / Jahrgang: | 15 |
Heft / Ausgabe: | 182 |
Originalveröffentlichung / Quelle: | BMC Neurology (2015) 15:182. DOI 10.1186/s12883-015-0449-3 |
DOI: | https://doi.org/10.1186/s12883-015-0449-3 |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 611 Menschliche Anatomie, Zytologie, Histologie |
Freie Schlagwort(e): | 2B; deficiency; features; gene mutations; gridle muscular-dystrophy; heterogeneity; italian patients; membrane repair; miyoshi myopathy; molecular analysis |
Datum der Freischaltung: | 04.11.2016 |
Lizenz (Deutsch): | CC BY: Creative-Commons-Lizenz: Namensnennung |