Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene

Neuropediatrics

Volumn 33, Issue 5, 2002, Pages 249-254

  Barisic, N ^f   Schmidt, C ^a   Sidorova, O P ^b   Herczegfalvi, A ^c   Gekht, B M ^d   Song, I H ^a   Stucka, R ^a   Karcagi, V ^e   Abicht, A ^a   Lochmuller H ^a,f  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b M F VLADIMIRSKY MOSCOW REGIONAL RESEARCH CLINICAL INSTITUTE   (Russian Federation)

^c Bethesda Children's Hospital   (Hungary)

^d INSTITUTE OF GENERAL PATHOLOGY AND PATHOPHYSIOLOGY   (Russian Federation)

^e National Public Health Center   (Hungary)

^f Genzentrum München ^*

Author keywords

mRNA; AChR Deficiency; AChR Subunit; Congenital Myasthenic Syndrome (CMS); Splice Site Mutation

Indexed keywords

CHOLINERGIC RECEPTOR; EPSILON ACETYLCHOLINE RECEPTOR; GENE PRODUCT; PYRIDOSTIGMINE; RECEPTOR SUBUNIT; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELISM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CROATIA; EATON LAMBERT SYNDROME; ELECTROPHYSIOLOGY; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MALE; NEUROMUSCULAR TRANSMISSION; PATHOGENESIS; POSTSYNAPTIC INHIBITION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RUSSIAN FEDERATION; SIBLING;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CROATIA; FEMALE; HUMANS; HUNGARY; MALE; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; RECEPTORS, CHOLINERGIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RUSSIA;

EID: 0036823302     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2002-36738     Document Type: Article

References (22)

1. Abitch A, Strucka R, Karcagi V, Herczegfalvi A, Horvarth R, Mortier W et al. A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology 1999; 53: 1564-1569
2. Abicht A, Stucka R, Song I-H, Karcagi V, Kugler K, Baumgarten-Walczak A et al. Genetic analysis of the entire AChR ε-subunit gene in 52 congenital myasthenic families. Acta Myologica 2000; 19: 23-28
3. Beeson D, Newland C, Croxen R, Buckel A, Li FY, Larsson C et al. Congenital myasthenic syndromes. Studies of the AChR and other candidate genes. Ann N Y Acad Sci 1998; 841: 181-183
4. Brengman JM, Ohno K, Milone M, Shen X-M, Friedman JRL, Feldmann RG et al. Identification and functional characterization of eight novel acetylcholine receptor (AChR) mutations in six congenital myasthenic syndrome (CMS) kinships. Neurology 2000; 54 (Suppl 3): P03.064
5. Burset M, Seledtsov IA, Solovyev VV. Analysis of canonical and noncanonical splice sites in mammalian genomes. Nucleic Acids Res 2000; 28: 4364-4375
6. Burset M, Seledtsov IA, Solovyev VV. Splice DB: database of canonical and non-canonical mammalian splice sites. Nucleic Acids Res 2001; 29: 255-259
7. Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987; 162: 156-159
8. Croxen R, Young C, Slater C, Haslam S, Brydson M, Vincent A et al. Endplate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations. Brain 2001; 124: 1362-1372
9. Donger C, Krejci E, Serradell AP, Eymard B, Bon S, Nicole S et al. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (Type 1c). Am J Hum Genet 1998; 63: 967-975
10. Engel AG. Myasthenic Syndromes. 2nd ed. New York: McGraw-Hill, 1994
11. Engel AG. Congenital myasthenic syndromes. 73rd ENMC International Workshop, 22-23 October, 1999, Naarden, The Netherlands. Neuromuscul Disord 2001; 11: 315-321
12. Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. Ann Neurol 1996; 40: 810-817
13. Engel AG, Ohno K, Sine S. Congenital myasthenic syndromes. Arch Neurol 1999; 56: 163-167
14. Karcagi V, Tournev I, Schmidt C, Herczegfalvi A, Guergueltcheva V, Litvinenko I et al. Congenital myasthenic syndrome in southeastern European Roma (Gypsies). Acta Myologica 2001; 20: 231-237
15. Middleton LT. Congenital myasthenic syndromes. 34th ENMC International Workshop, 10-11 June 1995. Neuromuscul Disord 1996; 6: 133-136
16. Ohno K, Anlar B, Ozdirim E, Brengman JM, DeBleecker JL, Engel AG. Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor. Ann Neurol 1998; 44: 234-241
17. Ohno K, Brengman J, Tsujino A, Engel AG. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proc Natl Acad Sci USA 1998; 95: 9654-9659
18. Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM et al. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet 2002; 70: 875-885
19. Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, Udd B et al. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci USA 2001; 98: 2017-2022
20. Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen XM et al. Three novel COLQ mutations and variation of phenotypic expressivity due to G240 X. Neurology 2002; 58: 603-609
21. Sieb JP, Kraner S, Schrank B, Reitter B, Goebel TH, Tzartos SJ et al. Severe congenital myasthenic syndrome due to homozygosity of the 1293insG ε-acetylcholine receptor subunit mutation. Ann Neurol 2000; 48: 379-383
22. Vincent A, Beeson D, Lang B. Molecular targets for autoimmune and genetic disorders of neuromuscular transmission. Eur J Biochem 2000; 267: 6717-6728