Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
X-linked dominant Charcot-Marie-Tooth disease (CMTX1) is a peripheral neuropathy which maps to Xq13 and is flanked by the loci DXS106 (Xq11.2-q12) and DXS559 (Xq13.1). Contained within this interval of approximately 2-3Mb of DNA is the gene, connexin 32 (locus designation GJ beta 1). This gene encod...
| Main Authors: | , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
1994
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| _version_ | 1797074382748647424 |
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| author | Fairweather, N Bell, C Cochrane, S Chelly, J Wang, S Mostacciuolo, M Monaco, A Haites, N |
| author_facet | Fairweather, N Bell, C Cochrane, S Chelly, J Wang, S Mostacciuolo, M Monaco, A Haites, N |
| author_sort | Fairweather, N |
| collection | OXFORD |
| description | X-linked dominant Charcot-Marie-Tooth disease (CMTX1) is a peripheral neuropathy which maps to Xq13 and is flanked by the loci DXS106 (Xq11.2-q12) and DXS559 (Xq13.1). Contained within this interval of approximately 2-3Mb of DNA is the gene, connexin 32 (locus designation GJ beta 1). This gene encodes a gap junction protein which is expressed in large quantities within the liver and throughout a range of other mammalian tissues. We have sequenced the coding region of exon 2 of this gene from affected individuals in nine families with CMTX 1 and have found mutations which segregate with the disease in eight of these families. The mutations detected include missense point mutations at codons 15, 60, 63, 208, and 215, a nonsense point mutation at codon 220, deletions of one base in codon 72/3 producing a stop codon 12 codons down stream and a three base pair deletion which can be predicted to result in the loss of a single amino acid. These findings are consistent with the disease CMTX1 being the result of mutations affecting the gene connexin 32 (Cx32). |
| first_indexed | 2024-03-06T23:35:20Z |
| format | Journal article |
| id | oxford-uuid:6d76fb07-bb17-4b12-aacf-7083ecbe0169 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T23:35:20Z |
| publishDate | 1994 |
| record_format | dspace |
| spelling | oxford-uuid:6d76fb07-bb17-4b12-aacf-7083ecbe01692022-03-26T19:17:58ZMutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:6d76fb07-bb17-4b12-aacf-7083ecbe0169EnglishSymplectic Elements at Oxford1994Fairweather, NBell, CCochrane, SChelly, JWang, SMostacciuolo, MMonaco, AHaites, NX-linked dominant Charcot-Marie-Tooth disease (CMTX1) is a peripheral neuropathy which maps to Xq13 and is flanked by the loci DXS106 (Xq11.2-q12) and DXS559 (Xq13.1). Contained within this interval of approximately 2-3Mb of DNA is the gene, connexin 32 (locus designation GJ beta 1). This gene encodes a gap junction protein which is expressed in large quantities within the liver and throughout a range of other mammalian tissues. We have sequenced the coding region of exon 2 of this gene from affected individuals in nine families with CMTX 1 and have found mutations which segregate with the disease in eight of these families. The mutations detected include missense point mutations at codons 15, 60, 63, 208, and 215, a nonsense point mutation at codon 220, deletions of one base in codon 72/3 producing a stop codon 12 codons down stream and a three base pair deletion which can be predicted to result in the loss of a single amino acid. These findings are consistent with the disease CMTX1 being the result of mutations affecting the gene connexin 32 (Cx32). |
| spellingShingle | Fairweather, N Bell, C Cochrane, S Chelly, J Wang, S Mostacciuolo, M Monaco, A Haites, N Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) |
| title | Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) |
| title_full | Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) |
| title_fullStr | Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) |
| title_full_unstemmed | Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) |
| title_short | Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) |
| title_sort | mutations in the connexin 32 gene in x linked dominant charcot marie tooth disease cmtx1 |
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