-459C>T point mutation in 5′ non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy

Journal of the Peripheral Nervous System

Volumn 14, Issue 1, 2009, Pages 14-21

  Li, Miaoxin ^a   Cheng, Tat Sun ^b   Ho, Philip W L ^b   Chan, Koon Ho ^b   Mak, Windsor ^b   Cheung, Raymond T F ^b   Ramsden, David B ^c   Sham, Pak Chung ^b   Song, Youqiang ^a   Ho, Shu Leong ^b  

^a Department of Biochemistry ^*

^b UNIVERSITY OF HONG KONG   (Hong Kong)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

Charcot Marie Tooth; GJB1 (Connexin32); Mutation; Neuropathy; Non coding region

Indexed keywords

UNTRANSLATED RNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME VARIANT; CLINICAL ARTICLE; CLINICAL FEATURE; DEMYELINATING NEUROPATHY; DNA POLYMORPHISM; ELECTROPHYSIOLOGY; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN GENOME; HUMAN TISSUE; INTERNAL RIBOSOME ENTRY SITE; MALE; MYELINATED NERVE; NERVE BIOPSY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RNA TRANSLATION; SCHOOL CHILD; SCHWANN CELL; SENSORIMOTOR NEUROPATHY; SURAL NERVE;

5' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CONNEXINS; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; NEURAL CONDUCTION; PERIPHERAL NERVES; POINT MUTATION; SEQUENCE ANALYSIS; YOUNG ADULT;

EID: 62849106648     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2009.00201.x     Document Type: Article

References (32)

1. Altschul S, Madden T, Schaffer A, Zhang JH, Zhang Z, Miller W, Lipman D (1997). Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25 : 3389 3402.
2. Babendure JR, Babendure JL, Ding JH, Tsien RY (2006). Control of mammalian translation by mRNA structure near caps. RNA 12 : 851 861.
3. Berger P, Young P, Suter U (2002). Molecular cell biology of Charcot-Marie-Tooth disease. Neurogenetics 4 : 1 15.
4. Bergmann C, Schroder JM, Rudnik-Schoneborn S, Zerres K, Senderek J (2001). A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany. Brain Res Mol Brain Res 88 : 183 185.
5. Bergmann C, Zerres K, Rudnik-Schoneborn S, Eggermann T, Schroder JM, Senderek J (2002). Allelic variants in the 5′ non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX). J Med Genet 39 : e58.
6. Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Leger JM, Agid Y, Brice A, Bouche P (1998). X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology 50 : 1074 1082.
7. Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR (2002). Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 51 : 190 201.
8. Bone LJ, Deschenes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS (1997). Connexin32 and X-linked Charcot-Marie-Tooth disease. Neurobiol Dis 4 : 221 230.
9. Flagiello L, Cirigliano V, Strazzullo M, Cappa V, Ciccodicola A, D'Esposito M, Torrente I, Werner R, Di Iorio G, Rinaldi M, Dallapiccola A, Forabosco A, Ventruto V, D'Urso M (1998). Mutation in the nerve-specific 5′ non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online. Hum Mutat 12 : 361.
10. Hahn AF, Bolton CF, White CM, Brown WF, Tuuha SE, Tan CC, Ainsworth PJ (1999). Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease. Ann N Y Acad Sci 883 : 366 382.
11. Hofacker IL, Fontana W, Stadler PF, Bonhoeffer LS, Tacker M, Schuster P (1994). Fast folding and comparison of RNA secondary structures. Monatsh Chem 125 : 167 188.
12. Houlden H, Girard M, Cockerell C, Ingram D, Wood NW, Goossens M, Walker RW, Reilly MM (2004). Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. Ann Neurol 56 : 730 734.
13. Hudder A, Werner R (2000). Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene. J Biol Chem 275 : 34586 34591.
14. Huttner IG, Kennerson ML, Reddel SW, Radovanovic D, Nicholson GA (2006). Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. Neurology 67 : 2016 2021.
15. Ionasescu VV, Searby C, Ionasescu R, Neuhaus IM, Werner R (1996). Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 47 : 541 544.
16. Kleopa KA, Scherer SS (2006). Molecular genetics of X-linked Charcot-Marie-Tooth disease. Neuromolecular Med 8 : 107 122.
17. Kleopa KA, Zamba-Papanicolaou E, Alevra X, Nicolaou P, Georgiou DM, Hadjisavvas A, Kyriakides T, Christodoulou K (2006). Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X. Neurology 66 : 396 402.
18. Mathews DH, Turner DH (2006). Prediction of RNA secondary structure by free energy minimization. Curr Opin Struct Biol 16 : 270 278.
19. Mathews DH, Sabina J, Zuker M, Turner DH (1999). Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure. J Mol Biol 288 : 911 940.
20. Mathews DH, Disney MD, Childs JL, Schroeder SJ, Zuker M, Turner DH (2004). Incorporating chemical modification constraints into a dynamic programming algorithm for prediction of RNA secondary structure. Proc Natl Acad Sci U S A 101 : 7287 7292.
21. Mokrejs M, Vopalensky V, Kolenaty O, Masek T, Feketova Z, Sekyrova P, Skaloudova B, Kriz V, Pospisek M (2006). IRESite: the database of experimentally verified IRES structures (www.iresite.org). Nucleic Acids Res 34 : D125 D130.
22. Nicholson GA (2006). The dominantly inherited motor and sensory neuropathies: clinical and molecular advances. Muscle Nerve 33 : 589 597.
23. Niemann A, Berger P, Suter U (2006). Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med 8 : 217 242.
24. Pickering BM, Willis AE (2005). The implications of structured 5′ untranslated regions on translation and disease. Semin Cell Dev Biol 16 : 39 47.
25. Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, Ramaekers VT, Quasthoff S, Karch D, Schroder JM (1999). X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations (1). J Neurol Sci 167 : 90 101.
26. Shepard PJ, Hertel KJ (2008). Conserved RNA secondary structures promote alternative splicing. RNA 14 : 1463 1469.
27. Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA, Reilly M (2005). Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 64 : 1209 1214.
28. Szigeti K, Garcia CA, Lupski JR (2006). Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med 8 : 86 92.
29. Tabaraud F, Lagrange E, Sindou P, Vandenberghe A, Levy N, Vallat JM (1999). Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. Muscle Nerve 22 : 1442 1447.
30. Takashima H, Nakagawa M, Umehara F, Hirata K, Suehara M, Mayumi H, Yoshishige K, Matsuyama W, Saito M, Jonosono M, Arimura K, Osame M (2003). Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease. Acta Neurol Scand 107 : 31 37.
31. Wang HL, Wu T, Chang WT, Li AH, Chen MS, Wu CY, Fang W (2000). Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene. Mol Brain Res 78 : 146 153.
32. Wu T, Wang HL, Chu CC, Yu JM, Chen JY, Huang CC (2004). Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis. Chang Gung Med J 27 : 489 500.