Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (<it>MFN2</it>)
<p>Abstract</p> <p>Background</p> <p>Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the <it>MFN2 </it>gene have been reported as the primary cause of Charcot-Marie-Tooth disea...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2006-06-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/7/53 |
| _version_ | 1818405478283083776 |
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| author | Haas Gerhard Hagedorn Michaela Vorgerd Matthias Engelfried Kathrin Gilles Jürgen Epplen Jörg T Meins Moritz |
| author_facet | Haas Gerhard Hagedorn Michaela Vorgerd Matthias Engelfried Kathrin Gilles Jürgen Epplen Jörg T Meins Moritz |
| author_sort | Haas Gerhard |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the <it>MFN2 </it>gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.</p> <p>Methods</p> <p>Patients with the clinical diagnosis of Charcot-Marie-Tooth type 2 were screened using single strand conformation polymorphism (SSCP). All DNA samples showing band shifts in the SSCP analysis were amplified from genomic DNA and cycle sequenced.</p> <p>Results</p> <p>We analyzed a total of 73 unrelated patients with a clinical diagnosis of CMT 2. Overall, novel mutations were detected in 6 patients. c.380G>T (G127V), c.1128G>A (M376I), c.1040A>T (E347V), c.1403G>A (R468H), c.2113G>A (V705I), and c.2258_2259insT (L753fs).</p> <p>Conclusion</p> <p>We confirmed a significant role of mutations in <it>MFN2 </it>in the pathogenesis of Charcot-Marie-Tooth disease type 2.</p> |
| first_indexed | 2024-12-14T08:56:41Z |
| format | Article |
| id | doaj.art-976e099764ff4f4d9e483ee66ddc67ac |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-14T08:56:41Z |
| publishDate | 2006-06-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-976e099764ff4f4d9e483ee66ddc67ac2022-12-21T23:08:54ZengBMCBMC Medical Genetics1471-23502006-06-01715310.1186/1471-2350-7-53Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (<it>MFN2</it>)Haas GerhardHagedorn MichaelaVorgerd MatthiasEngelfried KathrinGilles JürgenEpplen Jörg TMeins Moritz<p>Abstract</p> <p>Background</p> <p>Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the <it>MFN2 </it>gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.</p> <p>Methods</p> <p>Patients with the clinical diagnosis of Charcot-Marie-Tooth type 2 were screened using single strand conformation polymorphism (SSCP). All DNA samples showing band shifts in the SSCP analysis were amplified from genomic DNA and cycle sequenced.</p> <p>Results</p> <p>We analyzed a total of 73 unrelated patients with a clinical diagnosis of CMT 2. Overall, novel mutations were detected in 6 patients. c.380G>T (G127V), c.1128G>A (M376I), c.1040A>T (E347V), c.1403G>A (R468H), c.2113G>A (V705I), and c.2258_2259insT (L753fs).</p> <p>Conclusion</p> <p>We confirmed a significant role of mutations in <it>MFN2 </it>in the pathogenesis of Charcot-Marie-Tooth disease type 2.</p>http://www.biomedcentral.com/1471-2350/7/53 |
| spellingShingle | Haas Gerhard Hagedorn Michaela Vorgerd Matthias Engelfried Kathrin Gilles Jürgen Epplen Jörg T Meins Moritz Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (<it>MFN2</it>) BMC Medical Genetics |
| title | Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (<it>MFN2</it>) |
| title_full | Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (<it>MFN2</it>) |
| title_fullStr | Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (<it>MFN2</it>) |
| title_full_unstemmed | Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (<it>MFN2</it>) |
| title_short | Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (<it>MFN2</it>) |
| title_sort | charcot marie tooth neuropathy type 2a novel mutations in the mitofusin 2 gene it mfn2 it |
| url | http://www.biomedcentral.com/1471-2350/7/53 |
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