Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita

Journal of Korean Medical Science

Volumn 24, Issue 6, 2009, Pages 1038-1044

  Moon, In Soo ^a,b   Kim, Hyang Sook ^b   Shin, Jin Hong ^b   Park, Yeong Eun ^b   Park, Kyu Hyun ^b   Shin, Yong Bum ^b   Bae, Jong Seok ^c   Choi, Young Chul ^d   Kim, Dae Seong ^b  

^a Dae Dong Hospital   (South Korea)

^b Pusan National University School of Medicine   (South Korea)

^c Inje University   (South Korea)

^d Yonsei University College of Medicine   (South Korea)

Author keywords

CLCN1; Clinical features; Myotonia congenita

Indexed keywords

CHLORIDE CHANNEL; CLC 1 CHANNEL; CLC-1 CHANNEL;

ADULT; AMINO ACID SEQUENCE; ARTICLE; ASIAN; EXON; GENETICS; HUMAN; INFANT; KOREA; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD; PROTEIN CONFORMATION; THOMSEN DISEASE;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD, PRESCHOOL; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; INFANT; KOREA; MALE; MOLECULAR SEQUENCE DATA; MYOTONIA CONGENITA; POINT MUTATION; PROTEIN CONFORMATION; YOUNG ADULT;

EID: 75349109298     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2009.24.6.1038     Document Type: Article

References (30)

1. Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992; 257: 797-800.
2. George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet 1993; 3: 305-10.
3. Kubisch C, Schmidt-Rose T, Fontaine B, Bretag AH, Jentsch TJ. ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet 1998; 7: 1753-60.
4. Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet 1994; 3: 941-6.
5. Lehmann-Horn F, Rudel R. Molecular pathophysiology of voltagegated ion channels. Rev Physiol Biochem Pharmacol 1996; 128: 195-268.
6. Lossin C, George AL Jr. Myotonia congenita. Adv Genet 2008; 63: 25-55.
7. Lehmann-Horn F, Mailander V, Heine R, George AL. Myotonia levior is a chloride channel disorder. Hum Mol Genet 1995; 4: 1397-402.
8. Colding-Jørgensen E, Dunø M, Schwartz M, Vissing J. Decrement of compound muscle action potential is related to mutation type in myotonia congenita. Muscle Nerve 2003; 27: 449-55.
9. Dutzler R, Campbell EB, Cadene M, Chait BT, MacKinnon R. X-ray structure of a ClC chloride channel at 3.0 Å reveals the molecular basis of anion selectivity. Nature 2002; 415: 287-94.
10. Dutzler R, Campbell EB, MacKinnon R. Gating the selectivity filter in ClC chloride channels. Science 2003; 300: 108-12.
11. Fahlke C, Desai RR, Gillani N, George AL Jr. Residues lining the inner pore vestibule of human muscle chloride channels. J Biol Chem 2001; 276: 1759-65.
12. Pusch M. Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum Mutat 2002; 19: 423-34.
13. Sasaki R, Ichiyasu H, Ito N, Ikeda T, Takano H, Ikeuchi T, Kuzuhara S, Uchino M, Tsuji S, Uyama E. Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia. Neuromuscul Disord 1999; 9: 587-92.
14. Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R, Haworth A, Stanley E, Sud R, Wakeling W, Davis MB, Kullmann DM, Hanna MG. Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. Brain 2007; 130: 3265-74.
15. Bateman A. The structure of a domain common to archaebacteria and the homocystinuria disease protein. Trends Biochem Sci 1997; 22: 12-3.
16. Scott JW, Hawley SA, Green KA, Anis M, Stewart G, Scullion GA, et al. CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. J Clin Invest 2004; 113: 274-84.
17. Estévez R, Pusch M, Ferrer-Costa C, Orozco M, Jentsch TJ. Functional and structural conservation of CBS domains from CLC chloride channels. J Physiol 2004; 557: 363-78.
18. Deymeer F, Cakirkaya S, Serdaroǧlu P, Schleithoff L, Lehmann-Horn F, Rüdel R, Ozdemir C. Transient weakness and compound muscle action potential decrement in myotonia congenita. Muscle Nerve 1998; 21: 1334-7.
19. Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am J Hum Genet 1995; 57: 1325-34.
20. Wu FF, Ryan A, Devaney J, Warnstedt M, Korade-Mirnics Z, Poser B, Escriva MJ, Pegoraro E, Yee AS, Felice KJ, Giuliani MJ, Mayer RF, Mongini T, Palmucci L, Marino M, Rüdel R, Hoffman EP, Fahlke C. Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain 2002; 125: 2392-407.
21. Colding-Jørgensen E. Phenotypic variability in myotonia congenita. Muscle Nerve 2005; 32: 19-34.
22. Mailänder V, Heine R, Deymeer F, Lehmann-Horn F. Novel muscle chloride channel mutations and their effects on heterozygous carriers. Am J Hum Genet 1996; 58: 317-24.
23. Deymeer F, Lehmann-Horn F, Serdaroǧlu P, Çakirkaya S, Benz S, Rüdel R, Ozdemir C. Electrical myotonia in heterozygous carriers of recessive myotonia congenita. Muscle Nerve 1999; 22: 123-5.
24. Fialho D, Kullmann DM, Hanna MG, Schorge S. Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita. Neuromuscul Disord 2008; 18: 869-72.
25. Dun M, Colding-Jørgensen E, Grunnet M, Jespersen T, Vissing J, Schwartz M. Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. Eur J Hum Genet 2004; 12: 738-43.
26. Hakim CA, Thomlinson J. Myotonia congenita in pregnancy. J Obstet Gynaecol Br Commonw 1969; 76: 561-2.
27. Michel P, Sternberg D, Jeannet PY, Dunand M, Thonney F, Kress W, Fontaine B, Fournier E, Kuntzer T. Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. Muscle Nerve 2007; 36: 643-50.
28. Fournier E, Viala K, Gervais H, Sternberg D, Arzel-Hézode M, Laforêt P, Eymard B, Tabti N, Willer JC, Vial C, Fontaine B. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006; 60: 356-65.
29. Rüdel R, Dengler R, Ricker A, Haass A, Emser W. Improved therapy of myotonia with the lidocaine derivative tocainide. J Neurol 1980; 222: 275-8.
30. Meola G, Sansone V. Therapy in myotonic disorders and in muscle channelopathies. Neurol Sci 2000; 21 (5 Suppl): S953-61.