Key result
Nine of 13 Swiss patients with dysferlinopathy carried the identical homozygous DYSF splice site mutation c.3031+2T>C, suggesting a potential founder effect in Central Switzerland.
Observational (n=13)
Yes
The study identifies common and novel DYSF mutations in Swiss patients with dysferlinopathy, suggesting a potential founder effect for the c.3031 + 2 T>C mutation.
Does not alter dysferlinopathy management; leaves open a founder effect requiring population-based confirmation.
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.
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Petersen et al. (2015) conducted an observational in Dysferlinopathy (n=13). DYSF gene mutations was evaluated on Identification of DYSF mutations and clinical phenotypes. Nine of 13 Swiss patients with dysferlinopathy carried the identical homozygous DYSF splice site mutation c.3031+2T>C, suggesting a potential founder effect in Central Switzerland.
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