Methods of detecting novel mutations relating to X-linked Charco

Details Methods of detecting novel mutations relating to X-linked Charco Methods of detecting novel mutations relating to X-linked Charco

1996-06-05

1997-11-25

Zitomer, Stephanie W.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 536 231, 536 235, 536 2431, 935 8, 935 77, 935 78, 436 63, C12Q 168, C07H 2104

Patent

active

056911440

ABSTRACT:
Specific mutations in the connexin-32 gene that are associated with X-linked Charcot-Marie-Tooth (CMT) disease are disclosed. Methods of diagnosing X-linked CMT disease are also disclosed. Methods include hybridization analysis, such as Southern or Northern analysis, which use hybridization of mutant connexin-32 nucleic acid probes to connexin-32 genes; direct mutation analysis by restriction digest; sequencing of the connexin-32 gene; hybridization of an allele-specific oligonucleotide with amplified genomic DNA; or identification of mutant connexin-32 proteins. Mutant connexin-32 nucleic acid probes are also disclosed. The mutant connexin-32 nucleic acid probes have a mutation in at least one of the following codons: 12, 26, 28, 44, 75, 86, 100, 103, 107, 124, 142, 154, 157, 160, 161, 172, 179, 181, 183, 185, 187, 198, 204, 205, 219, 230 and 235. Mutant connexin-32 nucleic acid probes having more than one of the mutations described above are also described, as are mutant connexin-32 nucleic acid probes having other mutations in addition to at least one mutation as described above. Isolated, mutant connexin-32 proteins encoded by mutant connexin-32 genes, as well as antibodies specific for the mutant connexin-32 proteins, are also disclosed.

REFERENCES:
Bergoffen, J., et al., "Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease", Science, 262:2039-2042 ( Dec. 24, 1993).
Bone, L.J., et al., "New Connexin32 Mutations Associated with X-Linked Charcot-Marie-Tooth Disease", Neurology, 45:1863-1866 (Oct. 1995).
Chance, P.F., and Fischbeck, K.H., "Molecular Genetics of Charcot-Marie-Tooth Disease and related Neuropathies", Human Molecular Genetics, 3:1503-1507 (1994).
Fairweather, N., et al., "Mutations in the Connexin32 Gene in X-Linked Dominant Charcot-Marie-Tooth Disease (CMTX1)", Human Molecular Genetics, 3(1):29-34 (1994).
Ionasesu, V., "Charcot-Marie-Tooth Neuropathies: From Clinical Description to Molecular Genetics", Muscle and Nerve, 18:267-275 (1995).
Ionasesu, V., et al., "New Point Mutations and Deletions of the Connexin32 Gene in X-Linked Charcot-Marie-Tooth Neuropathy", Neuromusc. Disord., 5(4):297-299 (1995).
Ionasescu, V., et al., "Point Mutations of the Connexin32 (GJB1) Gene in X-Linked Dominant Charcot-Marie-Tooth Neuropathy", Human Molecular Genetics, 3(2):355-358 (1994).
Kumar, N.M. and Gilula, N.A., "Coding for a Gap Junction Protein", The Journal of Cell Biology, 103:767-776 (Sep. 1986).
Orth, U., et al., "X-Linked Dominant Charcot-Marie-Tooth Neuropathy: Valine-38-Methionine Substitution of ConneXin32", Human Molecular Genetics, 3(9):1699-1700 (1994).
Tan, C.C., et al., "Novel Mutations in the Connexin32 Gene Associated with X-Linked Charcot-Marie-Tooth Disease", Human Mutation, 7:167-171 (1996).
Cherryson, A., et al., "Mutational Studies in X-Linked Charcot-Marie-Tooth Disease (CMTX)", Am. J. Hum. Genet., 55:Abstract No. 1261, A216 (1994).
Tan, C. and Ainsworth, P., "Novel Mutations in the connexin32 Gene Associated with X-linked Charcot-Marie-Tooth Disease", Am. J. Hum. Genet., 55:Abstract No. 1431, A245 (1994).
Nelis, E., et al., "Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary neuropathy with Liability to Pressure Palsies: A European Collaborative Study", Eur. J. Hum. Genet., 4:25-33 (1996).
Nelis, E., et al., "Mutation Analysis of the Connexin 32 (Cx32) gene in Charcot-Marie-Tooth Neuropathy Type 1: Identification of Five New Mutations", Human Mutation, 9:47-52 (1997).
Oterino, A., et al., "Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease", J. Med. Genet., 33:413-415 (1996).
Bruzzone, R., et al., "Null Mutations of connexin32 in Patients with X-Linked Charcot-Marie-Tooth Disease", Neuron., 13:1253-1260 (Nov., 1994).
Ionasescu, V.V., et al., "Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy", Neurology, 47:541-544 (1996).
Pericak-Vance, M.A., et al., "Consortium Fine Localization of X-Linked Charcot-Marie-Tooth Disease (CMTX1): Additional Support that Conne xin32 Is the Defect in CMTX1", Hum. Hered, 45:121-128 (1995).
Ressot, C., et al., "X-linked dominant Chacot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene", Hum. Genet., 98:172-175 (1996).

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