Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping

Neuromuscular Disorders

Volumn 24, Issue 1, 2014, Pages 43-47

  Joshi, Pushpa Raj ^a   Gläser, Dieter ^b   Dreßel, Carolin ^b   Kress, Wolfram ^c   Weis, Joachim ^d   Deschauer, Marcus ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b Genetikum   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Anoctamin 5; Dysferlin; Exon skipping; Mutation; Silent mutation

Indexed keywords

ADULT; ANOC5 GENE; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; EXON; GASTROCNEMIUS MUSCLE; GENE; GENE MUTATION; HETEROZYGOSITY; HISTOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; INTRON; MALE; MIDDLE AGED; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCLE MASS; MUSCLE MASS LOSS; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ANOCTAMIN 5; DYSFERLIN; EXON SKIPPING; MUTATION; SILENT MUTATION;

CHLORIDE CHANNELS; EXONS; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES; MUTATION;

EID: 84891920748     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.09.003     Document Type: Article

References (27)

1. Hartzell H.C., Yu K., Xiao Q., Chien L.T., Qu Z. Anoctamin/TMEM16 family members are Ca2+ -activated Cl- channels. J Physiol 2009, 587:2127-2139.
2. Jaiswal J.K., Marlow G., Summerill G., et al. Patients with non-dysferlin Miyoshi myopathy have a novel membrane repair defect. Traffic 2007, 8:77-88.
3. Majneh I., Jaiswal J., Lamminen A., et al. A new distal myopathy with mutation in anoctamin 5. Neuromuscul Disord 2010, 20:791-795.
4. Bolduc V., Marlow G., Boycott K.M., et al. Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet 2010, 86:213-221.
5. Hicks D., Sarkozy A., Muelas N., et al. A founder mutation in anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain 2011, 134:171-182.
6. Deschauer M., Joshi P.R., Gläser D., Hanisch F., Stoltenburg G., Zierz S. Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings. Nervenarzt 2011, 82:1596-1603.
7. Bouquet F., Cossée M., Béhin A., et al. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene. Rev Neurol (Paris) 2012, 168:135-141.
8. Schessl J., Kress W., Schoser B. Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. Muscle Nerve 2012, 45:740-742.
9. Magri F., Del Bo R., D'Angelo M.G., et al. Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. Neuromuscul Disord 2012, 22:934-943.
10. Penttilä S., Palmio J., Suominen T., et al. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology 2012, 78:897-903.
11. Little A.A., McKeever P.E., Gruis K.L. Novel mutations in the Anoctamin 5 gene (ANO5) associated with Limb-girdle muscular dystrophy 2L. Muscle Nerve 2013, 47:287-291.
12. Van Der Kooi A.J., Ten Dam L., Frankhuizen W.S., et al. ANO5 mutations in the Dutch limb girdle muscular dystrophy population. Neuromuscul Disord 2013, 23:456-460.
13. Tsutsumi S., Kamata N., Vokes T.J., et al. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplegia (GDD). Am J Hum Genet 2004, 74:1255-1261.
14. Fernandez-Cadenas I., Andreu A.L., Gamez J., et al. Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease. Neurology 2003, 61:1432-1434.
15. Liu H.X., Cartegni L., Zhang M.Q., Krainer A.R. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 2001, 27:55-58.
16. Liu H.X., Chew S.L., Cartegni L., Zhang M.Q., Krainer A.R. Exonic splicing enhancer motif recognized by human SC35 under splicing conditions. Mol Cell Biol 2000, 20:1063-1071.
17. Woolfe A., Mullikin J.C., Elnitski L. Genomic features defining exonic variants that modulate splicing. Genome Biol 2010, 11:R20.
18. Wenzel K., Carl M., Perrot A., et al. Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. Hum Mutat 2006, 27:599-600.
19. Fokkema I.F., Taschner P.E., Schaafsma G.C., Celli J., Laros J.F., den Dunnen J.T. LOVD v. 2.0: the next generation in gene variant databases. Hum Mutat 2011, 32:557-563.
20. Sherry S.T., Ward M.H., Kholodov M., et al. DbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001, 29:308-311.
21. Blandin G., Beroud C., Labelle V., et al. UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene. Hum Mutat 2012, 33:E2317-E2331.
22. Milone M., Liewluck T., Winder T.L., Pianosi P.T. Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. Neuromuscul Disord 2012, 22:13-15.
23. Sarkozy A., Deschauer M., Carlier R.Y., et al. Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord 2012, 22(S2):122-129.
24. Rosales X.Q., Gastier-Foster J.M., Lewis S., et al. Novel diagnostic features of dysferlinopathies. Muscle Nerve 2010, 42:14-21.
25. Neusch C., Kuhlmann T., Kress W., Schneider-Gold C. Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report. J Med Case Rep 2012, 6:34.
26. Graveley B.R. Sorting out the complexiety of SR protein functions. RNA 2000, 6:1197-1211.
27. Krahn M., Béroud C., Labelle V., et al. Analysis of the DYSF Mutational spectrum in a large cohort of patients. Hum Mutat 2008, 30:E345-E375.