A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease

Journal of the Peripheral Nervous System

Volumn 16, Issue 1, 2011, Pages 65-70

  Murphy, Sinéad M ^a,b   Polke, James ^b   Manji, Hadi ^a,b   Blake, Julian ^a,b,c   Reiniger, Lilla ^b   Sweeney, Mary ^b   Houlden, Henry ^b   Brandner, Sebastian ^b   Reilly, Mary M ^a,b  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

5 UTR; Charcot Marie Tooth disease; connexin 32; GJB1; promoter

Indexed keywords

5' UNTRANSLATED REGION; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GJB1 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; X CHROMOSOME LINKAGE;

5' UNTRANSLATED REGIONS; ADULT; AGE OF ONSET; AGED; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; ELECTROPHYSIOLOGY; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 79955064671     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2011.00321.x     Document Type: Article

References (27)

1. Beauvais K, Furby A, Latour P, (2006). Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 promoter and a rare polymorphism in LITAF/SIMPLE. Neuromusc Dis 16: 14-18. (Pubitemid 43089621)
2. Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH, (1993). Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262: 2039-2042. (Pubitemid 24041884)
3. Bondurand N, Girard M, Pingault V, Lemort N, Dubourg O, Goossens M, (2001). Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. Hum Mol Genet 10: 2783-2795. (Pubitemid 34026460)
4. Demirci F, Radak A, Rigatti B, Mah T, Gorin M, (2004). A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping. Am J Ophthalmol 138: 504-505. (Pubitemid 39208594)
5. 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. Hum Mutat 12: 361.
6. Hahn A, (1993). Hereditary Motor and Sensory Neuropathy: HMSN Type II (Neuronal Type) and X-linked HMSN. Brain Pathol 3: 147-155. (Pubitemid 23139416)
7. 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. (Pubitemid 39540757)
8. Hudder A, Werner R, (2000). Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the Connexin32 gene. J Biol Chem 275: 34586-23491.
9. 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. (Pubitemid 26324057)
10. 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. (Pubitemid 43739943)
11. Ladopoulou A, Konstantopoulou I, Armaou S, Efstathiou E, Mihalatos M, Nasioulas G, Bardi G, Pandis N, Yannoukakos D, (2002). A change at the last base of BRCA1 exon 23, 5586G>A, results in abnormal RNA splicing. Cancer Genet Cytogenet 134: 175-177. (Pubitemid 34553467)
12. Latour P, Gonnaud P-M, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I, (2006). SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. J Peripher Nerv Syst 11: 148-155. (Pubitemid 43894082)
13. Lewis RA, Sumner AJ, Shy ME, (2000). Electrophysiological features of inherited demyelinating neuropathies: a reappraisal in the era of molecular diagnosis. Muscle Nerve 23: 1472-1487.
14. Mersiyanova IV, Ismailov SM, Polvakov AV, Dadail EL, Fredotov VP, Nelis E, Lofgren A, Timmerman V, Van Broeckhoven C, Evgrafov OV, (2000). Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat 15: 340-347. (Pubitemid 30194724)
15. Mostacciuolo ML, Righetti E, Zortea M, Boesello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F, (2001). Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families. Hum Mutat 18: 32-41. (Pubitemid 32588476)
16. Neuhaus IM, Dahl G, Werner R, (1995). Use of alternate promoters for tissue-specific expression of the gene coding for connexin 32. Gene 158: 257-262.
17. Nicholson G, Nash J, (1993). Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 43: 2558-2564. (Pubitemid 24004545)
18. Pertea M, Lin X, Salzberg SL, (2001). GeneSplicer: a new computational method for splice site prediction. Nucl Acids Res 29: 1185-1190. (Pubitemid 32186204)
19. Reilly MM, Shy ME, (2009). Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry 80: 1304-1314.
20. Rozear MP, Pericak-Vance MA, Fischbeck K, Stajich JM, Gaskell PC Jr, Krendel DA, Graham DG, Dawson DV, Roses AD, (1987). Hereditary motor and sensory neuropathy, X-linked: A half century follow-up. Neurology 37: 1460-1465. (Pubitemid 17132325)
21. 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. J Neurol Sci 167: 90-101. (Pubitemid 29393095)
22. Skre H, (1974). Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 6: 98-118.
23. Söhl G, Gillen C, Bosse F, Gleichmann M, Müller HW, Willecke K, (1996). A second alternative transcript of the gap junction gene connexin32 is expressed in murine Schwann cells and modulated in injured sciatic nerve. Eur J Cell Biol 69: 267-275. (Pubitemid 26095221)
24. Sohl G, Theis M, Hallas G, Brambach S, Dahl E, Kidder G, Willecke K, (2001). A new alternatively spliced transcript of the mouse connexin32 gene is expressed in embryonic stem cells, oocytes, and liver. Experimental Cell Research 266: 177-186. (Pubitemid 32989054)
25. 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. (Pubitemid 30417495)
26. Yeo G, Burge C, (2004). Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comp Biol 11: 377-394. (Pubitemid 38901668)
27. Zhang MQ, (1998). Statistical features of human exons and their flanking regions. Hum Mol Genet 7: 919-932. (Pubitemid 28221257)