Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36

American Journal of Human Genetics

Volumn 62, Issue 6, 1998, Pages 1439-1445

  Moghadaszadeh, Behzad ^a   Desguerre, Isabelle ^b   Topaloglu, Haluk ^c   Muntoni, Francesco ^d   Pavek, Sylvana ^e   Sewry, Caroline ^d   Mayer, Michèle ^b   Fardeau, Michel ^a   Tomé, Fernando M S ^a   Guicheney, Pascale ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c HACETTEPE UNIVERSITY   (Turkey)

^d HAMMERSMITH HOSPITAL   (United Kingdom)

^e CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MEROSIN;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 1P; CLINICAL ARTICLE; DISEASE CLASSIFICATION; ENZYME DEFICIENCY; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE BIOPSY; MUSCLE RIGIDITY; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; SCOLIOSIS; VITAL CAPACITY;

EID: 17344366176     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301882     Document Type: Article

References (32)

1. Banker BQ (1994) The congenital muscular dystrophies. In: Engel AG, Franzini-Amstrong C (eds) Myology, 2d ed. McGraw-Hill, New York, pp 1275-1289
2. Ben Hamida M, Hentati F, Ben Hamida C (1987) Maladie à multiminicores au cours d'un syndrome de la colonne raide. Rev Neurol (Paris) 143:284-289
3. Bertini E, Marini R, Sabetta G, Palmieri GP, Spagnoli LG, Vaccario ML, de Barsy T (1986) The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases. J Neurol 233:248-253
4. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
5. Dubowitz V (1973) Rigid spine syndrome: a muscle syndrome in search of a name. Proc R Soc Med 66:219-220
6. _ (1996) 41st ENMC International Workshop on Congenital Muscular Dystrophy, 8-10 March 1996, Naarden, The Netherlands. Neuromuscul Disord 6:295-306
7. _ (1997) 50th ENMC International Workshop: congenital muscular dystrophy, 28 February 1997 to 2 March 1997, Naarden, The Netherlands. Neuromuscul Disord 7: 539-547
8. Efthimiou J, McLelland J, Round J, Gribbin HR, Loh L, Spiro SG (1987) Diaphragm paralysis causing ventilatory failure in an adult with the rigid spine syndrome. Am Rev Respir Dis 136:1483-1485
9. Emery AEH, Dreifuss FE (1966) Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry 29:338-342
10. Faraco J, Bashir M, Rosenbloom J, Francke U (1995) Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170. Genomics 25:630-637
11. Fardeau M, Tomé FMS, Helbling-Leclerc A, Evangelista T, Ottolini A, Chevallay M, Barois A, et al (1996) Dystrophie musculaire congénitale avec déficience en mérosine: analyse clinique, histopathologique, immunocytochimique et génétique. Rev Neurol (Paris) 152:11-19
12. Fontaine B, Nicole S, Topaloglu H, Ben Hamida C, Beighton P, Spaans F, Cantu JMA, et al (1996) Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval. Hum Genet 98:380-385
13. Fukuyama Y, Kawamura M, Haruna H (1960) A peculiar form of congenital progressive muscular dystrophy: report of fifteen cases. Paediatr Univ Tokyo (Tokyo) 4:5-8
14. Goto I, Muraoka S, Fujii N, Ohta M, Kuroiwa Y (1981) Rigid spine syndrome: clinical and histological problems. J Neurol 226:143-148
15. Helbling-Leclerc A, Topaloglu H, Tomé FMS, Sewry C, Gyapay G, Naom I, Muntoni F, et al (1995a) Readjusting the localization of merosin (laminin α2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2. C R Acad Sci III 318:1245-1252
16. Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FMS, et al (1995b) Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 11:216-218
17. Hillaire D, Leclerc A, Fauré S, Topaloglu H, Chiannilkulchaï N, Guicheney P, Grinas L, et al (1994) Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 3: 1657-1661
18. Kallunki P, Eddy RL, Byers MG, Kestila M, Shows TB, Tryggvason K (1991) Cloning of human heparan sulfate proteoglycan core protein, assignment of the gene (HSPG2) to 1p36.1→p35 and identification of a BamHI restriction fragment length polymorphism. Genomics 11:389-396
19. Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570
20. Merlini L, Granata C, Ballestrazzi A, Marini ML (1989) Rigid spine syndrome and rigid spine sign in myopathies. J Child Neurol 4:274-282
21. Morita H, Kondo K, Hoshino K, Maruyama K, Yanagisawa N (1990) Rigid spine syndrome with respiratory failure. J Neurol Neurosurg Psychiatry 53:782-784
22. Mussini JM, Mathé JF, Prost A, Gray F, Labat JJ, Fève JR (1982) Le syndrome de la colonne raide: un cas féminin. Rev Neurol (Paris) 138:25-37
23. Palmucci L, Mongini T, Doriguzzi C, Maniscalco M, Schiffer D (1991) Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy. J Neurol Neurosurg Psychiatry 54:42-45
24. Philpot J, Sewry C, Pennock J, Dubowitz V (1995) Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromuscul Disord 5:301-305
25. Poewe W, Willeit H, Sluga E, Mayr U (1985) The rigid spine syndrome: a myopathy of uncertain nosological position. J Neurol Neurosurg Psychiatry 48:887-893
26. Ras GJ, van Staden M, Schultz C, Stubgen JP, Lotz BP, van der Merwe C (1994) Respiratory manifestations of rigid spine syndrome. Am J Respir Crit Care Med 150:540-546
27. Rowland LP, Fetell M, Olarte M, Hays A, Singh N, Wanat FE (1979) Emery-Dreifuss muscular dystrophy. Ann Neurol 5: 111-117
28. Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Suzuki M, et al (1993) Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet 5:283-286
29. Tomé FMS, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, Barois A, et al (1994) Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 317: 351-357
30. Topaloglu H, Gosgus S, Yalaz K, Kulkali T, Serdaroglu A (1994) Two siblings with nemaline myopathy presenting with rigid spine syndrome. Neuromuscul Disord 4:263-267
31. van Munster ETL, Joosten EMG, van Munster-Uijtdehaage MAM, Kruls HJA, Ter Laak HJ (1986) The rigid spine syndrome. J Neurol Neurosurg Psychiatry 49:1292-1297
32. Vignal A, Gyapay G, Hazan J, Nguyen S, Dupraz C, Cheron N, Becuwe N, et al (1993) Non-radioactive multiplex procedure for genotyping of microsatellite markers. In: Adolph KW (ed) Methods in molecular genetics. Academic Press, New York, pp 211-221