Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

Journal of Medical Genetics

Volumn 34, Issue 2, 1997, Pages 99-104

  Naom, Isam S ^a   D'Alessandro, Mariella ^a   Topaloglu, Haluk ^b   Sewry, Caroline ^a   Ferlini, Alessandra ^a   Helbling Leclerc, Anne ^c   Guicheney, Pascale ^c   Weissenbach, Jean ^d   Schwartz, Ketty ^c   Bushby, Kate ^e   Philpot, Jo ^a   Dubowitz, Victor ^a   Muntoni, Francesco ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b HACETTEPE UNIVERSITY   (Turkey)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d GÉNÉTHON   (France)

^e Department of Human Genetics ^*  (United Kingdom)

Author keywords

Congenital muscular dystrophy; Linkage; Merosin

Indexed keywords

LAMININ; MATRIX PROTEIN; MEROSIN; MUSCLE PROTEIN; SCLEROPROTEIN; LAMININ ALPHA2;

ADOLESCENT; ARTICLE; CENTROMERE; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 6Q; CONTROLLED STUDY; DOWN REGULATION; FEMALE; GENE EXPRESSION REGULATION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MUSCULAR DYSTROPHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SCHOOL CHILD; SKELETAL MUSCLE; CHROMOSOME 6; CHROMOSOME MAP; CONSANGUINITY; GENETICS; HOMOZYGOTE;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; CONSANGUINITY; FEMALE; HAPLOTYPES; HOMOZYGOTE; HUMANS; LAMININ; LINKAGE (GENETICS); MALE; MUSCULAR DYSTROPHIES;

EID: 0030614661     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Dubowitz V. Muscle disorders in childhood. 2nd ed. Philadelphia: Saunders, 1995.
2. Echenne B, Arthius M, Billard C, et al. Congenital muscular dystrophy and cerebral CT scan anomalies. J Neurol Sci 1993;75:7-22.
3. Topaloglu H, Yalaz K, Renda Y, et al. Occidental type cerebromuscular dystrophy: a report of eleven cases. J Neurol Neurosurg Psychiatry 1991;54:226-9.
4. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromusc Disord 1995;5:301-5.
5. Dubowitz V. 22nd ENMC Sponsored Workshop on Congenital Muscular Dystrophy, held in Baarn, The Netherlands, 14-16 May 1993. Neuromusc Disord 1994;4:75-81.
6. Dubowitz V, Fardeau M. Proceedings of the 27th ENMC Sponsored Workshop on Congenital Muscular Dystrophy. Neuromusc Disord 1995;5:253-8.
7. Tomé FMS, Evangelists T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci Paris Life Sciences 1994;317:351-7.
8. Hillaire D, Leclerc A, Fauré S, et al. Localisation of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994;3:1657-61.
9. Sewry C, Philpot J, Mahony D, Wilson L, Muntoni F, Dubowitz V. Expression of laminin subunits in congenital muscular dystrophy. Neuromusc Disord 1995;5:307-16.
10. Burgeson RE, Chiquet M, Deutzmann R, et al. A new nomenclature for the laminins. Matrix Biology 1994;14: 209-11.
11. Philpot J, Topaloglu H, Pennock J, Dubowitz V. Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy. Neuromusc Disord 1995; 5:227-31.
12. Mercuri E, Muntoni F, Berardinelli A, Pennock J, Sewry C, Dubowitz V. Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. Neuropaediatrics 1995; 26:3-7.
13. Shorer Z, Philpot J, Muntoni F, Sewry C, Dubowitz V. Peripheral nerve involvement in congenital muscular dystrophy. J Child Neurol 1995;10:12-5.
14. Muntoni F, Philpot J, Spyrou N, Camici P, Dubowitz V. Cardiac involvement in merosin-negative congenital muscular dystrophy. Dev Med Child Neurol 1995;72:37.
15. Vuolteenaho R, Nissinen M, Sainio K, 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; 24:381-94.
16. Helbling-Leclerc A, Topaloglu H, Tomé FMS, et al. Readjusting the localisation of merosin α laminin (2 chain) deficiency CMD locus on chromosome 6q2. C R Acad Sci Paris Life Sciences 1995;318:1245-52.
17. Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutations in the laminin α2 chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995; 11:216-18.
18. Nissinen M, Helbling-Leclerc A, Zhang X, 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 (in press).
19. Sewry CA, Philpot J, Sorokin LM, et al. Diagnosis of merosin (laminin α2)-deficient congenital muscular dystrophy by skin biopsy. Lancet 1996;47:582-4.
20. Mullenback R, Lagoda PJL, We Her C. An efficient salt-choloroform extraction of DNA from blood and tissues. Trends Genet 1989;5:391.
21. Gyapay G, Morissette J, Vignal A, et al. The 1993-1994 Genethon human genetic linkage map. Nat Genet 1994;7: 246-339.
22. Dib C, Fauré S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 1996;380:152-4.
23. Naom IS, Mathew CG, Town M. Genetic mapping with microsatellites. In: Richwood D, Hames BD, eds. DNA cloning: complex genomes. 2nd ed. Oxford: Oxford University Press, 1995:195-217.
24. Tan E, Topaloglu H, Sewry C, et al. Late onset of muscular dystrophy with cerebral white matter changes due to partial merosin deficiency. Neuromusc Disord (in press).
25. Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987;236:1567-70.
26. Muntoni F, Sewry C, Wilson L, et al. Prenatal diagnosis of congenital muscular dystrophy. Lancet 1995;45:591.