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- W2037091174 abstract "Mutations in the anoctamin 5 (ANO5) gene, which encodes a putative calcium-activated chloride channel, have been described in patients with recessive limb-girdle muscular dystrophy (LGMD2L) and distal myopathies. The genetic screening of 42 French patients exhibiting morbid phenotypes compatible with a defect in this gene has led to the diagnosis of 10 cases (25% of cases) stemming from 9 families. Among those, we recognized 3 cases of distal Miyoshi-like myopathy with normal dysferlin, 4 cases of LGMD with generally asymmetric muscle involvement with prominent involvement of the quadriceps muscle, and 3 cases of highly elevated CK with no muscle weakness. CK were elevated in all patients. The involvement of the gastrocnemius muscles on imaging was a good clue for the diagnosis, even in patients with no weakness. The mutations described so far are point mutations among which the founder c.191 dup A nul mutation (exon 5) is predominant in Norhern European patients. In this cohort, a first screening for this mutation showed 6 chromosomes carrying this mutation out of the 84 chromosomes tested, one of them being homozygous. An extended scanning of the ANO5 study was then performed by sequencing the other exons. It showed 8 additional point mutations: 2 heterozygous premature nonsense mutations (R50X and Y811X), 6 missense mutations: F579S, L108R, N52K (heterozygous), and R58W (1 homozygous, 1 heterozygous), and one out of frame deletion of exons 15 to 17 (heterozygous). The new missense mutations are assumed to be pathogenic because there were not found in 126 control subjects, and because they affected conserved residues. The full analysis of the AN05 gene is still in progress. But our preliminary results already indicate that the mutation spectrum in this gene is broader that previously described. We emphasize that the 14 mutated chromosomes carried altogether 8 different mutations of which 6 are novel." @default.
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- W2037091174 date "2011-10-01" @default.
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- W2037091174 title "P2.49 Myopathies with mutations in anoctamin 5: Phenotype and gene mutations in a French cohort" @default.
- W2037091174 doi "https://doi.org/10.1016/j.nmd.2011.06.871" @default.
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