title: Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases.
abstract: We describe two Chilean patients with dysferlinopathy, a 32-year-old man with Miyoshi's distal myopathy and a 29-year-old woman with a proximodistal phenotype. Absence of dysferlin in frozen muscle biopsy allowed diagnostic confirmation. In these two patients, two mutations not previously identified in other populations were found: a homozygous c.1948delC (p.Leu650TyrfsX6) was found in the male patient; the heterozygous mutation c.1276G>A (p.Gly426Arg) was found in the female patient in association with the previously reported c.2858dupT (p.Phe954ValfsX2). To our knowledge, this is the first time that mutations in DYSF are identified in native Chileans. Our findings suggest the possibility that mutations in the DYSF gene were present in the Native American population before colonization.
authors.affiliation: Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago, Chile. jbevilacqua@mi.cl
authors.forename: Jorge A
authors.initials: JA
authors.lastname: Bevilacqua
authors.forename: Martin
authors.initials: M
authors.lastname: Krahn
authors.forename: Luis
authors.initials: L
authors.lastname: Pedraza
authors.forename: Roger
authors.initials: R
authors.lastname: Gejman
authors.forename: Sergio
authors.initials: S
authors.lastname: Gonzalez
authors.forename: Nicolas
authors.initials: N
authors.lastname: Lévy
mesh_terms: D000328:Adult; D002677:Chile; D003241:Consanguinity; D049310:Distal Myopathies / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D000073939:Dysferlin; D005260:Female; D016368:Frameshift Mutation; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007150:Immunohistochemistry; D007199:Indians, South American / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins