The Fukuyama congenital muscular dystrophy story

Neuromuscular Disorders

Volumn 10, Issue 3, 2000, Pages 153-159

  Toda, Tatsushi ^a   Kobayashi, Kazuhiro ^a   Kondo Iida, Eri ^a   Sasaki, Junko ^a   Nakamura, Yusuke ^a  

^a UNIVERSITY OF TOKYO   (Japan)

Author keywords

Chromosome 9q31; Founder mutation; Fukutin; Fukuyama congenital muscular dystrophy; Migration disorder; Muscle eye brain disease; Retrotransposon; Walker Warburg syndrome

Indexed keywords

FUKUTIN; UNCLASSIFIED DRUG;

BRAIN DEVELOPMENT; CHROMOSOME 9Q; CLINICAL FEATURE; GENE DELETION; GENE LOCATION; GENE MUTATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; MENTAL DEFICIENCY; MUSCULAR DYSTROPHY; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; RETROPOSON; REVIEW;

BRAIN; CHROMOSOME MAPPING; FOUNDER EFFECT; HAPLOTYPES; HUMANS; JAPAN; MUSCULAR DYSTROPHIES; PEDIGREE;

EID: 0034162666     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00109-1     Document Type: Review

References (56)

1. Tomé FMS, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. CR Acad Sci Paris 1994;317:351-357.
2. 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;11:216-218.
3. Moghadaszadeh B, Desguerre I, Topaloglu H, et al. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine on chromosome 1p35-36. Am J Hum Genet 1998;62:1439-1445.
4. Fukuyama Y, Kawazura M, Haruna H. A peculiar form of congenital progressive muscular dystrophy. Report of fifteen cases. Paediatr Univ Tokyo 1960;4:5-8.
5. Nonaka I, Chou SM. Congenital muscular dystrophy. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology, vol. 41. Amsterdam: North Holland, 1979. pp. 27-50.
6. Fukuyama Y, Osawa M, Suzuki H. Congenital muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations. Brain Dev 1981;3:1-29.
7. Osawa M, Sumida S, Suzuki N, et al. Fukuyama type congenital progressive muscular dystrophy. In: Fukuyama Y, Osawa M, Saito K, et al., editors. Congenital muscular dystrophies, Amsterdam: Elsevier, 1997. pp. 31-68.
8. Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998;394:388-392.
9. Fukuyama Y, Osawa M. A genetic study of the Fukuyama type congenital muscular dystrophy. Brain Dev 1984;6:373-390.
10. Takeshita K, Yoshino K, Kitahara T, Nakashima T, Kato N. Survey of Duchenne type and congenital type muscular dystrophy in Shimane, Japan. Jpn J Hum Genet 1977;22:43-47.
11. Hirayama Y, Suzuki H, Arima M. Survey of Fukuyama type congenital muscular dystrophy in Tokyo (in Japanese). No To Hattatsu 1992;24:27-31.
12. Chijiiwa T, Nishimura M, Inomata EI, Yamana J, Narazaki O, Kurokawa T. Ocular manifestations of congenital muscular dystrophy (Fukuyama type). Ann Ophthalmol 1983;15:921-928.
13. Tsusumi A, Uchida Y, Osawa M, Fukuyama Y. Ocular findings in Fukuyama type congenital muscular dystrophy. Brain Dev 1989;11:413-419.
14. Yoshioka M, Kuroki S. The clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. Am J Med Genet 1994;53:245-250.
15. Nonaka I, Sugita H, Takada K, Kumagai K. Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement. Muscle Nerve 1982;5:102-106.
16. Kamoshita S, Konishi Y, Segawa M, Fukuyama Y. Congenital muscular dystrophy as a disease of the central nervous system. Arch Neurol 1976;33:513-516.
17. Takada K, Nakamura H, Tanaka J. Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type). J Neuropathol Exp Neurol 1984;43:395-4-07.
18. Yoshioka M, Saiwai S, Kuroki S, Nigami H. MR imaging of the brain in Fukuyama-type congenital muscular dystrophy. Am J Neuroradiol 1991;12:63-65.
19. Tanaka K, Miura N, Satokata I, et al. Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. Nature 1990;348:73-76.
20. Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987;236:567-570.
21. Toda T, Segawa M, Nomura Y, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet 1993;5:283-286.
22. Toda T, Ikegawa S, Okui K, et al. Refined mapping of a gene responsible for Fukuyama type congenital muscular dystrophy: evidence for strong linkage disequilibrium. Am J Hum Genet 1994;55:946-950.
23. Kondo E, Saito K, Toda T, et al. Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis. Am J Med Genet 1996;66:169-174.
24. Takai Y, Tsutsumi O, Harada I, et al. Prenatal diagnosis of Fukuyamatype congenital muscular dystrophy by microsatellite analysis. Hum Reprod 1998;13:320-323.
25. Saito K, Kondo-Iida E, Kawakita Y, et al. Prenatal diagnosis of Fukuyama type congenital muscular dystrophy in eight Japanese families by haplotype analysis using new markers closest to the gene. Am J Med Genet 1998;76:310-316.
26. Miyake M, Nakahori Y, Matsushita I, et al. YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31. Genomics 1997;40:284-293.
27. Hästbacka J, de la Chapelle A, Mahtani MM, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994;78:1073-1087.
28. Lehesjoki AE, Koskiniemi M, Norio R, et al. Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet 1993;2:1229-1234.
29. Toda T, Miyake M, Kobayashi K, et al. Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. Am J Hum Genet 1996;59:1313-1320.
30. Kobayashi K, Nakahori Y, Mizuno K, et al. Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD). Hum Genet 1998;103:323-327.
31. Kazazian Jr HH, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE. Haemophilia A resulting from de novo insertion of LI sequences represents a novel mechanism for mutation in man. Nature 1988;332:164-166.
32. Wallace MR, Anderson LB, Saulino AM, Gregory PE, Glover TW, Collins FS. A de novo Alu insertion results in neurofibromatosis type 1. Nature 1991;353:864-866.
33. Miki Y, Katagiri T, Kasumi F, Yoshimoto T, Nakamura Y. Mutation analysis in the BRCA2 gene in primary breast cancers. Nat Genet 1996; 13:245-247.
34. Matsumura K, Nonaka I, Campbell KP. Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet 1993 ;341:521-522.
35. Hayashi KY, Engvall E, Arikawa-Hirasawa E, et al. Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci 1993;119:53-64.
36. Ishii H, Hayashi YK, Nonaka I, Arahata K. Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy. Neuromusc Disord 1997;7:191-197.
37. Nakano I, Funahashi M, Takada K, Toda T. Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? - Pathological study of the cerebral cortex of an FCMD fetus. Acta Neuropathol 1996;91:313-321.
38. Yamamoto T, Toyoda C, Kobayashi M, Kondo E, Saito K, Osawa M. Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy. Brain Dev 1997; 19:35-42.
39. Saito Y, Murayama S, Kawai M, Nakano I. Breached cerebral glia limitansialimitans-basal lamina complex in Fukuyama-type congenital muscular dystrophy. Acta Neuropathol 1999;98:330-336.
40. Yamamoto T, Armstrong D, Shibata N, Kanazawa M, Kobayashi M. Immature astrocytes in Fukuyama congenital muscular dystrophy: an immunohistochemical study. Pediatr Neurol 1999;20:31-37.
41. Eberhart DE, Curran T. Yayoi era mutation disrupts brain and muscle. NatMed 1998;4:1002-1003.
42. Fowler M, Manson JI. Congenital muscular dystrophy with malformation of central nervous system. In: Kakulas BA, editor. Clinical studies in myology, Amsterdam: Excerpta Medica, 1973. pp. 192-197.
43. Krijgsman JB, Barth PG, Stam EC, Slooff JL, Jaspar HHJ. Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family. Neuropädiatrie 1980;11:108-120.
44. Peters ACB, Bots GTAM, Roos RAC, van Gelderen HH. Fukuyama type congenital muscular dystrophy -two Dutch siblings. Brain Dev 1984;6:406-416.
45. Jong YJ, Kobayashi K, Toda T, et al. Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. Neuromusc Disord 2000;10:108-112.
46. Kondo-Iida E, Kobayashi K, Watanabe M, et al. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet 1999;8:2303-2309.
47. Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL. Syndrome with lissencephaly. II: Walker-Warburg and cerebrooculo-muscular syndromes and a new syndrome with type II lissencephaly. Am J Med Genet 1985;22:157-195.
48. Dobyns WB, Pagon RA, Armstrong D, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989;32:195-210.
49. Santavuori P, Leisti J, Kruus S. Muscle, eye and brain disease: a new syndrome. Neuropädiatrie 1977;8:553-558.
50. Pihko H, Santavuori P. Muscle-eye-brain (MEB) disease - a review. In: Fukuyama Y, Osawa M, Saito K, editors. Congenital muscular dystrophies, Amsterdam: Elsevier, 1997. pp. 99-104.
51. Kondo-Iida E, Saito K, Tanaka H, et al. Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. Hum Genet 1997;99:427-432.
52. Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y. Genetic identity of Fukuyama type congenital muscular dystrophy and Walker-Warburg syndrome. Ann Neurol 1995;37:99-101.
53. Cormand B, Avela K, Pihko H, et al. Assignment of the muscle-eyebrain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. Am J Hum Genet 1999;64:126-135.
54. Voit T, Sewry CA, Meyer K, et al. Preserved merosin M-chain (or Iaminin-α2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. Neuropediatrics 1995;26:148-155.
55. Wewer UM, Durkin ME, Zhang X, et al. Laminin β2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). Neurology 1995;45:2099-2101.
56. Haltia M, Leivo I, Somer H, et al. Muscle-eye-brain disease: a neuropathological study. Ann Neurol 1997;41:173-180.