Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
Publikation: Beitrag in Fachzeitschrift › Forschungsartikel › Beigetragen › Begutachtung
Beitragende
Abstract
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.
Details
Originalsprache | Englisch |
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Aufsatznummer | 182 |
Seiten (von - bis) | 182- |
Fachzeitschrift | BMC Neurology |
Jahrgang | 15 |
Publikationsstatus | Veröffentlicht - 6 Okt. 2015 |
Peer-Review-Status | Ja |
Externe IDs
Scopus | 84943399079 |
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researchoutputwizard | legacy.publication#66501 |
PubMed | 26444858 |
PubMedCentral | PMC4596355 |
Schlagworte
Schlagwörter
- Adolescent, Adult, Dysferlin, Female, Founder Effect, Heterozygote, Homozygote, Humans, Male, Membrane Proteins/genetics, Middle Aged, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Mutation, Phenotype, Switzerland, Young Adult