Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

Petersen, Jens A. and Kuntzer, Thierry and Fischer, Dirk and von der Hagen, Maja and Huebner, Angela and Kana, Veronika and Lobrinus, Johannes A. and Kress, Wolfram and Rushing, Elisabeth J. and Sinnreich, Michael and Jung, Hans H.. (2015) Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. BMC Neurology, 15. p. 182.

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Official URL: https://edoc.unibas.ch/62454/

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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 Switzerland carried the identical homozygous mutation, c.3031 + 2 T<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.2869 C<T (p.Gln957Stop), c.5928 G<A (p.Trp1976Stop)). CONCLUSIONS: Our study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2 T<C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c. 3031 + 2 T<C) suggested a possible founder effect.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Neuromuscular Research (Sinnreich)
UniBasel Contributors:Sinnreich, Michael
Item Type:Article, refereed
Article Subtype:Research Article
ISSN:1471-2377 (Electronic) 1471-2377 (Linking)
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:24 Nov 2018 13:47
Deposited On:24 Nov 2018 13:47

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