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ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation
- Source :
- Human Mutation, Vol. 34, no.8, p. 1111-1118 (2013), Human mutation, 2013, Vol.34(8), pp.1111-1118 [Peer Reviewed Journal], HUMAN MUTATION, r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau, instname
- Publication Year :
- 2013
- Publisher :
- Hindawi Limited, 2013.
-
Abstract
- Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported. We aimed to further investigate the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes, by screening 205 undiagnosed patients referred to our molecular service with a clinical suspicion of anoctaminopathy. A total of 42 unrelated patients had two ANO5 mutations (21%), whereas 14 carried a single change. We identified 34 pathogenic changes, 15 of which are novel. The c.191dupA mutation represents 61% of mutated alleles and appears to be less prevalent in non-Northern European populations. Retrospective clinical analysis corroborates the prevalently proximal lower limb phenotype, the male predominance and absence of major cardiac or respiratory involvement. Identification of cases with isolated hyperCKaemia and very late symptomatic male and female subjects confirms the extension of the phenotypic spectrum of the disease. Anoctaminopathy appears to be one of the most common adult muscular dystrophies in Northern Europe, with a prevalence of about 20%-25% in unselected undiagnosed cases. © 2013 WILEY PERIODICALS, INC.
- Subjects :
- muscular dystrophy
Adult
Male
medicine.medical_specialty
Anoctamins
Gene mutation
Biology
ANO5
medicine.disease_cause
Exon
Sex Factors
Chloride Channels
Internal medicine
Prevalence
Genetics
medicine
Muscular dystrophy
Humans
Allele
Myopathy
Genetics (clinical)
Retrospective Studies
Aged
LGMD2L
Mutation
Clinical pathology
Gender
Genetic Variation
Middle Aged
medicine.disease
Europe
Phenotype
Muscular Dystrophies, Limb-Girdle
Female
medicine.symptom
Limb-girdle muscular dystrophy
Subjects
Details
- ISSN :
- 10597794
- Volume :
- 34
- Database :
- OpenAIRE
- Journal :
- Human Mutation
- Accession number :
- edsair.doi.dedup.....de3e6e91bac2c99f929b8cc933a27687