Mutations in the laminin α2-chain gene in two children with early-onset muscular dystrophy

Brain

Volumn 123, Issue 1, 2000, Pages 31-41

  Naom, I ^a   D'Alessandro, M ^a   Sewry, C A ^a   Jardine, Philip ^b   Ferlini, A ^a   Moss, Tim ^b   Dubowitz, V ^a   Muntoni, Francesco ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b FRENCHAY HOSPITAL   (United Kingdom)

Author keywords

Laminin 2 chain; Merosin; Muscular dystrophy; Partial deficiency

Indexed keywords

ANTIBODY; COMPLEMENTARY DNA; CREATINE KINASE; LAMININ; MEROSIN;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 6Q; CLINICAL ARTICLE; CONSENSUS SEQUENCE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DEVELOPMENTAL DISORDER; DNA SEQUENCE; DNA TRANSCRIPTION; FEMALE; FRAMESHIFT MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; INTRON; MALE; MOTOR DEVELOPMENT; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; WALKING;

EID: 0033966862     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/123.1.31     Document Type: Article

References (39)

1. Ainsworth JR, Rossi LM, Murphy EC Jr. The Moloney murine sarcoma virus ts110 5′ splice site signal contributes to the regulation of splicing efficiency and thermosensitivity. J Virol 1996; 70: 6474-8.
2. Allamand V, Sunada Y, Salih MA, Starub V, Ozo CO, Al-Turaiki MH, et al. Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2 chain. Hum Mol Genet 1997; 6: 747-52.
3. Allikmets R, Wasserman WW, Hutchinson A, Smallwood P, Nathans J, Rogan PK, et al. Organization of the ABCR gene: analysis of promoter and splice junction sequences. Gene 1998; 215: 111-22.
4. Campbell KP. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. [Review]. Cell 1995; 80: 675-9.
5. Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987; 162: 156-9.
6. Church GM, Gilbert W. Genomic sequencing. Proc Natl Acad Sci USA 1984; 81: 1991-5.
7. Cohn RD, Herrmann R, Sorokin L, Wewer UM, Voit T. Laminin α2 chain-deficient congenital muscular dystrophy. Variable epitope expression in severe and mild cases. Neurology 1998; 51: 94-100.
8. Dubowitz V, editor. Muscle biopsy: a practical approach. 2nd ed. London: Baillière Tindall; 1985.
9. Dubowitz V, Fardeau M. Proceedings of the 27th ENMC Sponsored Workshop on Congenital Muscular Dystrophy. Neuromuscul Disord 1995; 5: 253-8.
10. Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Fery V, et al. PCR based mutation screening of the laminin alpha 2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. J Med Genet 1998; 35: 211-7.
11. Hayashi YK, Ishihara T, Domen K, Hori H, Arahata K. A benign allelic form of laminin α2 chain deficientmuscular dystrophy. [letter]. Lancet 1997; 349: 1147.
12. Helbling-Leclerc A, Topaloglu H, Tome FMS, Sewry C, Gyapay G, Naom I, et al. Readjusting the localization of merosin (laminin α2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2. C R Acad Sci III 1995a; 318: 1245-52.
13. Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, et al. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genet 1995b; 11: 216-8.
14. Hermann R, Straub V, Meyer K, Kahn T, Wagner M, Voit T. Congenital muscular dystrophy with laminin α2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry. Eur J Pediatr 1996; 155: 968-76.
15. Hillaire D, Leclerc A, Fauré S, Topaloglu H, Chiannilkulchài N, Guicheney P, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 692 by homozygosity mapping. Hum Mol Genet 1994; 3: 1657-61.
16. Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, Kaiser-Kupfer M, et al. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. Mol Vis 1998; 4: 21.
17. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987; 50: 509-17.
18. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988; 2: 90-5.
19. Mora M, Moroni I, Uziel G, Di Blasi C, Barresi R, Farina L, et al. Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities. Neuromuscul Disord 1996; 6: 377-81.
20. Mullenbach R, Lagoda PJ, Welter C. An efficient salt-chloroform extraction of DNA from blood and tissues. Trends Genet 1989; 5: 391.
21. Naom I, D'Alessandro M, Topaloglu H, Sewry C, Ferlini A, Helbling-Leclerc A, et al. Refinement of the lamininα2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. J Med Genet 1997; 34: 99-104.
22. Naom IS, D'Alessandro M, Sewry CA, Philpot J, Manzur AY, Dubowitz V, et al. Laminin α2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. Neuromuscul Disord 1998; 8: 495-501.
23. Nicholls AC, Oliver J, McCarron S, Winter GB, Pope FM. Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(1) chain of type 1 collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta. Hum Mutat 1996; 7: 219-27.
24. Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nature Genet 1996; 14: 145-8.
25. Nissinen M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, Cruaud C, et al. Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am J Hum Genet 1996; 58: 1177-84.
26. O'Neill JP, Rogan PK, Cariello N, Nicklas JA. Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum. [Review]. Mutat Res 1998; 411: 179-214.
27. Pegoraro E, Mancias P, Swerdlow SH, Raikow BR, Garcia C, Marks H, et al. Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathy. Ann Neurol 1996; 40: 782-91.
28. Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, et al. Laminin α2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology 1998; 51: 101-10.
29. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromuscul Disord 1995; 5: 301-5.
30. Raben N, Nichols RC, Martiniuk F, Plotz PH. A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II). Hum Mol Genet 1996; 5: 995-1000.
31. Sewry CA, Philpot J, Mahony D, Wilson LA, Muntoni F, Dubowitz V. Expression of laminin subunits in congenital muscular dystrophy. Neuromuscul Disord 1995; 5: 307-16.
32. Sewry CA, Naom I, D'Alessandro M, Sorokin L, Bruno S, Wilson LA, et al. Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin α2 chain. Neuromuscul Disord 1997; 7: 169-75.
33. Tan E, Topaloglu H, Sewry C, Zorlu Y, Naom I, Erdem S, et al. Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency. Neuromuscul Disord 1997; 7: 85-9
34. Tome FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994; 317: 351-7.
35. Turner Z, Lund C, Tolshave J, Vural B, Tonnesen T, Horn N. Identification of point mutations in 41 unrelated patients affected with Menkes disease Am J Hum Genet 1997; 60: 63-71.
36. Vreken P, Niessen RW, Peters M, Schaap MC, Zuithoff-Rijntjes JG, Sturk A. A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit a deficiency. Thromb Haemostasis 1995; 74: 584-9.
37. Vuolteenaho R, Nissinen M, Sainio K, Byers M, Eddy R, Hirvonen H, et al. Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. J Cell Biol 1994; 124: 381-94.
38. Yamada H, Shimizu T; Tanaka T; Campbell KP; Matsumura K. Dystroglycan is a binding protein of laminin and merosin in peripheral nerve. FEBS Lett 1994; 352: 49-53.
39. Zhang X, Vuolteenaho R, Tryggvason K. Structure of the human laminin α2-chain gene (LAMA2) which is affected in congenital muscular dystrophy. J Biol Chem 1996; 271: 27664-9.