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Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects #MMPMID26444858
Petersen JA; Kuntzer T; Fischer D; von der Hagen M; Huebner A; Kana V; Lobrinus JA; Kress W; Rushing EJ; Sinnreich M; Jung HH
BMC Neurol 2015[]; 15 (ä): ä PMID26444858show ga
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?+?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.