Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family

Genetic Testing

Volumn 11, Issue 4, 2007, Pages 391-396

  Rosas Vargas, H ^a   Gomez Diaz B ^a   Ruano Calderon L ^b   Fernandez Valverde F ^b   Roque Ramirez B ^a   Portillo Bobadilla, T ^c   Ordonez Razo R M ^a   Minauro Sanmiguel, F ^a   Coral Vazquez R ^a  

^a HOSPITAL DE PEDIATRÍA   (Mexico)

^b NATIONAL INSTITUTE OF NEUROLOGY AND NEUROSURGERY   (Mexico)

^c INSTITUTO DE ECOLOGÍA   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DYSFERLIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; COMPARTMENT SYNDROME; CONTROLLED STUDY; DISTAL ANTERIOR COMPARTMENT MYOPATHY; DYSF GENE; FEMALE; GENE; GENE MUTATION; GENE STRUCTURE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2; MEMBRANE BINDING; MEMBRANE FUSION; MEXICO; MISSENSE MUTATION; MIYOSHI MYOPATHY; MUSCLE DEVELOPMENT; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN DEFICIENCY; SARCOLEMMA;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; FEMALE; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; MEXICO; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE;

EID: 38149118226     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0039     Document Type: Article

References (27)

1. Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr (2001) Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 57:271-278.
2. Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, Mc-Neil PL, Campbell KP (2003) Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 423:168-172.
3. Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M (1998) A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20:37-42.
4. Bushby KM (1999) The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet 8:1875-1882.
5. Chiba Y, Shinde A, Kohara N, Akiguchi I, Nakano S, Hayashi YK, Shibasaki H (2003) Two sisters with dysferlinopathy manifesting different clinical phenotypes. Rinsho Shinkeigaku 43:188-191.
6. Cohn RD, Campbell KP (2000) Molecular basis of muscular dystrophies. Muscle Nerve 23:1456-1471.
7. Davis DB, Doherty KR, Delmonte AJ, McNally EM (2002) Calcium sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. J Biol Chem 277:22883-22888.
8. De Luna N, Gallardo E, Illa I (2004) In vivo and in vitro dysferlin expression in human muscle satellite cells. J Neuropathol Exp Neurol 63:1104-1113.
9. Dincer P, Akcoren Z, Demir E, Richard I, Sancak O, Kale G, Ozme S, Karaduman A, Tan E, Urtizberea JA, Beckmann JS, Topaloglu H (2000) A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families. J Med Genet 37:361-367.
10. Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH (2001) Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 49:130-134.
11. Kirschner J, Bonnemann CG (2004) The congenital and limb-girdle muscular dystrophies. Arch Neurol 61:189-199.
12. Lahiri DK, Bye S, Nurnberger JI Jr, Hodes ME, Crisp M (1992) A nonorganic and non-enzymatic extraction method gives higher yields of genomic DNA from whole-blood samples than do nine other methods tested. J Biochem Biophys Methods 25:193-205.
13. Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH (2003) Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 278:50466-50473.
14. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentai F, HAmida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr (1998) Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20:31-36.
15. Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (2000) Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. DNA Res 7:65-73.
16. Nalefski EA, Falke JJ (1996) The C2 domain calcium-binding motif: structural and functional diversity. Protein Sci 5:2375-2390.
17. Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Beroud C, Urtizberea A, Eymard B, Leturcq F, Levy N (2005) Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat 26:165-175.
18. Notredame C, Higgings DG, Heringa J (2000) T-Coffe: A novel method for fast and accurate multiple sequence alignment. J Mol Biol 302:205-217.
19. 2-+-binding domain. J Biol Chem 273:15879-15882.
20. Sonderman H, Kuriyan J (2005) C2 can do it, too. Cell 121:158-160.
21. Therrien C, Dodig D, Karpati G, Sinnreich M (2006) Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions. J Neurol Sci 250:71-78.
22. Ueyama H, Kumamoto T, Horinouchi H, Fujimoto S, Aono H, Tsuda T (2002) Clinical heterogeneity in dysferlinopathy. Intern Med 41:532-536.
23. Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-Garcia R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I (2005) Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol 62:1256-1259
24. Washington NL and Ward S (2006) FER-1 regulates Ca2+-mediated membrane fusion during C. elegans spermatogenesis. J Cell Sci 119:2552-2562.
25. Wenzel K, Carl M, Perrot A, Zabojszcza J, Assadi M, Ebeling M, Geier C, Robinson PN, Kress W, Osterziel KJ, Spuler S (2006) Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. Hum Mutat 27:599-600.
26. Wood V, Gwilliam R, Rajandream MA (2002) The genome sequence of Schizosaccharomyces pombe. Nature 415:871-880.
27. Zhou H, Zhou Y (2004) Quantifying the effect of burial of amino acid residues on protein stability. Proteins 54:315-322.