Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.

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Version: Final published version
Serval ID
serval:BIB_5DFF23E46ADD
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.
Journal
Bmc Neurology
Author(s)
Petersen J.A., Kuntzer T., Fischer D., von der Hagen M., Huebner A., Kana V., Lobrinus J.A., Kress W., Rushing E.J., Sinnreich M., Jung H.H.
ISSN
1471-2377 (Electronic)
ISSN-L
1471-2377
Publication state
Published
Issued date
2015
Peer-reviewed
Oui
Volume
15
Number
1
Pages
182
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
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.
Keywords
Adolescent, Adult, 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
Pubmed
Web of science
Open Access
Yes
Create date
27/10/2015 17:19
Last modification date
20/08/2019 14:16
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