GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease

Neurogenetics

Volumn 11, Issue 4, 2010, Pages 465-470

  Gonzaga Jauregui, Claudia ^a   Zhang, Feng ^a,b,c   Towne, Charles F ^d   Batish, Sat Dev ^d   Lupski, James R ^a,e  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b FUDAN UNIVERSITY   (China)

^c FUDAN UNIVERSITY   (China)

^d ATHENA DIAGNOSTICS INC   (United States)

^e TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Charcot Marie Tooth disease; Connexin32; Gene deletion; Genomic rearrangement; GJB1

Indexed keywords

CONNEXIN 32; PERIPHERAL MYELIN PROTEIN 22;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE LOCUS; GENE REARRANGEMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUTATIONAL ANALYSIS; NULL ALLELE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

ALLELES; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CODON, NONSENSE; COMPARATIVE GENOMIC HYBRIDIZATION; CONNEXINS; FRAMESHIFT MUTATION; GENE DELETION; GENETIC DISEASES, X-LINKED; GENOME; HUMANS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 78650041728     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-010-0247-4     Document Type: Article

References (26)

1. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann DN, Howard JF Jr, Lauria G, Miller RG, Polydefkis M, Sumner AJ (2009) Practice parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology 72:185-192
2. Pareyson D, Marchesi C (2009) Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 8:654-667
3. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232
4. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogenduk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, Van Broeckhoven C (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromuscul Disord 1:93-97
5. Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223-228
6. Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143-151
7. 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)
8. Söhl G, Gillen C, Bosse F, Gleichmann M, Muller H, 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
9. Kleopa K, Scherer S (2006) Molecular genetics of X-linked Charcot-Marie-Tooth disease. Neuromolecular Med 8:107-122
10. Ressot C, Gomes D, Dautigny A, Pham-Dinh D, Bruzzone R (1998) Connexin32 mutations associated with X-linked Charcot- Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties. J Neurosci 18:4063-4075
11. Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF (2007) CMT1X phenotypes represent loss of GJB1 gene function. Neurology 68:849-855
12. Ainsworth PJ, Bolton CF, Murphy BC, Stuart JA, Hahn AF (1998) Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene. Hum Genet 103:242-244
13. Lin C, Numakura C, Ikegami T, Shizuka M, Shoji M, Nicholson G, Hayasaka K (1999) Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease. Tohoku J Exp Med 188:239-244
14. Nakagawa M, Takashima H, Umehara F, Arimura K, Miyashita F, Takenouchi N, Matsuyama W, Osame M (2001) Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence. J Neurol Sci 185:31-37
15. Hahn AF, Ainsworth PJ, Naus CCG, Mao J, Bolton CF (2000) Clinical and pathological observations in men lacking the gap junction protein connexin 32. Muscle Nerve 23:S39-S48
16. 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
17. Lee JA, Carvalho CMB, Lupski JR (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131:1235-1247
18. Sen SK, Han K, Wang J, Lee J, Wang H, Callinan PA, Dyer M, Cordaux R, Liang P, Batzer MA (2006) Human genomic deletions mediated by recombination between Alu elements. 79:41-53.
19. Lieber MR (2008) The mechanism of human nonhomologous DNA end joining. J Biol Chem 283:1-5
20. Gu W, Zhang F, Lupski J (2008) Mechanisms for human genomic rearrangements. Patho Genetics 1:4
21. Zhang F, Carvalho CMB, Lupski JR (2009) Complex human chromosomal and genomic rearrangements. Trends Genet 25:298-307
22. Hastings PJ, Ira G, Lupski JR (2009) A Microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5:e1000327
23. Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR (2009) The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 41:849-853
24. Carvalho CMB, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR (2009) Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet 18:2188-2203
25. Scherer SS, Xu Y-T, Nelles E, Fischbeck KH, Willecke K, Bone LJ (1998) Connexin32-null mice develop demyelinating peripheral neuropathy. Glia 24:8-20
26. Scherer SS, Xu Y-T, Messing A, Willecke K, Fischbeck KH, Jeng LJB (2005) Transgenic expression of human connexin32 in myelinating schwann cells prevents demyelination in connexin32-null mice. J Neurosci 25:1550-1559