<it>MFN2 </it>point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
<p>Abstract</p> <p>Background</p> <p>Point mutations in the <it>mitofusin 2 </it>(<it>MFN2</it>) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. <it>MFN2 </it>po...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2010-03-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/11/48 |
| _version_ | 1818885006362148864 |
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| author | Lobato Ana Sand Jette C Braathen Geir J Høyer Helle Russell Michael B |
| author_facet | Lobato Ana Sand Jette C Braathen Geir J Høyer Helle Russell Michael B |
| author_sort | Lobato Ana |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Point mutations in the <it>mitofusin 2 </it>(<it>MFN2</it>) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. <it>MFN2 </it>point mutations are probably the most common cause of CMT2.</p> <p>Methods</p> <p>Two-hundred and thirty-two consecutive unselected and unrelated CMT families with available DNA from all regions in Norway were included. We screened for point mutations in the <it>MFN2 </it>gene.</p> <p>Results</p> <p>We identified four known and three novel point mutations in 8 unrelated CMT families. The novel point mutations were not found in 100 healthy controls. This corresponds to 3.4% (8/232) of CMT families have point mutations in the <it>MFN2 </it>gene. The phenotypes were compatible with CMT1 in two families, CMT2 in four families, intermediate CMT in one family and distal Hereditary Motor Neuropathy (dHMN) in one family. This corresponds to 2.3% of CMT1, 5.5% of CMT2, 12.5% of intermediate CMT and 6.7% of dHMN families have a point mutation in the <it>MFN2 </it>gene. Point mutations in the <it>MFN2 </it>gene is likely to be the fourth most common cause to CMT after duplication of the peripheral myelin protein 22 (PMP22) gene, and point mutations in the Connexin32 (Cx32) and myelin protein zero (MPZ) genes.</p> <p>Conclusions</p> <p>The identified known and novel point mutations in the <it>MFN2 </it>gene expand the clinical spectrum from CMT2 and intermediate CMT to also include possibly CMT1 and the dHMN phenotypes. Thus, genetic analyses of the <it>MFN2 </it>gene should not be restricted to persons with CMT2.</p> |
| first_indexed | 2024-12-19T15:58:35Z |
| format | Article |
| id | doaj.art-625380ca049645c7a4cc42a208ff63bc |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-19T15:58:35Z |
| publishDate | 2010-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-625380ca049645c7a4cc42a208ff63bc2022-12-21T20:14:59ZengBMCBMC Medical Genetics1471-23502010-03-011114810.1186/1471-2350-11-48<it>MFN2 </it>point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT familiesLobato AnaSand Jette CBraathen Geir JHøyer HelleRussell Michael B<p>Abstract</p> <p>Background</p> <p>Point mutations in the <it>mitofusin 2 </it>(<it>MFN2</it>) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. <it>MFN2 </it>point mutations are probably the most common cause of CMT2.</p> <p>Methods</p> <p>Two-hundred and thirty-two consecutive unselected and unrelated CMT families with available DNA from all regions in Norway were included. We screened for point mutations in the <it>MFN2 </it>gene.</p> <p>Results</p> <p>We identified four known and three novel point mutations in 8 unrelated CMT families. The novel point mutations were not found in 100 healthy controls. This corresponds to 3.4% (8/232) of CMT families have point mutations in the <it>MFN2 </it>gene. The phenotypes were compatible with CMT1 in two families, CMT2 in four families, intermediate CMT in one family and distal Hereditary Motor Neuropathy (dHMN) in one family. This corresponds to 2.3% of CMT1, 5.5% of CMT2, 12.5% of intermediate CMT and 6.7% of dHMN families have a point mutation in the <it>MFN2 </it>gene. Point mutations in the <it>MFN2 </it>gene is likely to be the fourth most common cause to CMT after duplication of the peripheral myelin protein 22 (PMP22) gene, and point mutations in the Connexin32 (Cx32) and myelin protein zero (MPZ) genes.</p> <p>Conclusions</p> <p>The identified known and novel point mutations in the <it>MFN2 </it>gene expand the clinical spectrum from CMT2 and intermediate CMT to also include possibly CMT1 and the dHMN phenotypes. Thus, genetic analyses of the <it>MFN2 </it>gene should not be restricted to persons with CMT2.</p>http://www.biomedcentral.com/1471-2350/11/48 |
| spellingShingle | Lobato Ana Sand Jette C Braathen Geir J Høyer Helle Russell Michael B <it>MFN2 </it>point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families BMC Medical Genetics |
| title | <it>MFN2 </it>point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families |
| title_full | <it>MFN2 </it>point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families |
| title_fullStr | <it>MFN2 </it>point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families |
| title_full_unstemmed | <it>MFN2 </it>point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families |
| title_short | <it>MFN2 </it>point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families |
| title_sort | it mfn2 it point mutations occur in 3 4 of charcot marie tooth families an investigation of 232 norwegian cmt families |
| url | http://www.biomedcentral.com/1471-2350/11/48 |
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