Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

Neuromuscular Disorders

Volumn 13, Issue 3, 2003, Pages 236-244

  Ishigaki, Keiko ^a,b   Nicolle, Delphine ^a   Krejci, Eric ^c   Leroy, Jean Paul ^d   Koenig, Jeanine ^a   Fardeau, Michel ^a   Eymard, Bruno ^a   Hantaï, Daniel ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c ECOLE NORMALE SUPÉRIEURE   (France)

^d CHU MORVAN   (France)

Author keywords

Acetylcholinesterase; Collagen; Congenital myasthenic syndrome; Neuromuscular junction

Indexed keywords

ACETYLCHOLINESTERASE;

ADULT; ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE COURSE; DISEASE SEVERITY; ENZYME DEFICIENCY; EXON; FEMALE; GENE MUTATION; GENETIC CODE; HUMAN; HUMAN TISSUE; INTRON; MYASTHENIA GRAVIS; NERVE ENDING; NEUROMUSCULAR SYNAPSE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RESPIRATORY FAILURE; RNA SPLICING; SKELETAL MUSCLE; STOP CODON;

EID: 0037374620     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0960-8966(02)00243-2     Document Type: Article

References (18)

1. Engel A.G., Ohno K., Sine S.M. Congenital myasthenic syndromes. Engel A.G. Myasthenia gravis and myasthenic disorders. 1999;251-297 Oxford University Press, New York/Oxford.
2. Engel A.G., Lambert E.H., Gomez M.R. A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Ann Neurol. 1:1977;315-330.
3. Hutchinson D.O., Engel A.G., Walls T.J., et al. The spectrum of congenital end-plate acetylcholinesterase deficiency. Ann NY Acad Sci. 681:1993;469-486.
4. Bon S., Coussen F., Massoulié J. Quaternary associations of acetylcholinesterase. II. The polyproline attachment domain of the collagen tail. J Biol Chem. 272:1997;3016-3021.
5. Simon S., Krejci E., Massoulié J. A four-to-one association between peptide motifs: four C-terminal domains from cholinesterase assemble with one proline-rich attachment domain (PRAD) in the secretory pathway. EMBO J. 17:1998;6178-6187.
6. Donger C., Krejci E., Serradell A.P., et al. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). Am J Hum Genet. 63:1998;967-975.
7. Ohno K., Brengman J., Tsujino A., Engel A.G. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proc Natl Acad Sci USA. 95:1998;9654-9659.
8. Ohno K., Brengman J.M., Felice K.J., Cornblath D.R., Engel A.G. Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A(G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? Am J Hum Genet. 65:1999;635-644.
9. Ohno K., Engel A.G., Brengman J.M., et al. The spectrum of mutations causing end-plate acetylcholinesterase deficiency. Ann Neurol. 47:2000;162-170.
10. Shapira Y.A., Sadeh M.E., Bergtraum M.P., et al. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. Neurology. 58:2002;603-609.
11. Koelle G.B., Friedenwald J.S. A histological method for localization of cholinesterase activity. Proc Soc Exp Biol Med. 70:1949;617-622.
12. Couteaux R., Taxi J. Recherches histochimiques sur la distribution des activités cholinestérasiques au niveau de la synapse myoneurale. Arch Anat Micr Morphol Exp. 41:1952;352-392.
13. Karlsson E., Mbugua P.M., Rodriguez-Ithurralde D. Fasciculins, anticholinesterase toxins from the venom of the green mamba Dendroaspis angusticeps. J Physiol. 79:1984;232-240.
14. Feng G., Krejci E., Sanes J.R., et al. Genetic analysis of collagen Q. Roles in acetylcholinesterase and butyrylcholinesterase assembly and in synaptic structure and function. J Cell Biol. 144:1999;1349-1360.
15. Legay C., Bon S., Vernier P., et al. Cloning and expression of a rat acetylcholinesterase subunit: generation of multiple molecular forms and complementarity with a Torpedo collagenic subunit. J Neurochem. 60:1993;337-346.
16. Krejci E., Legay C., Thomine S., Sketelj J., Massoulié J. Differences in expression of acetylcholinesterase and collagen Q control the distribution and oligomerization of the collagen-tailed forms in fast and slow muscles. J Neurosci. 19:1999;10672-10679.
17. Kunkel T.A., Roberts J.D., Zakour R.A. Rapid and efficient site-specific mutagenesis without phenotypic selection. Methods Enzymol. 154:1987;367-382.
18. Frohman M.A. Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: thermal RACE. Methods Enzymol. 218:1993;340-356.