Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT) type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atrophy of the h...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2015-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC4526224?pdf=render |
| _version_ | 1819010352357048320 |
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| author | Yi-Chu Liao Yo-Tsen Liu Pei-Chien Tsai Chia-Ching Chang Yen-Hua Huang Bing-Wen Soong Yi-Chung Lee |
| author_facet | Yi-Chu Liao Yo-Tsen Liu Pei-Chien Tsai Chia-Ching Chang Yen-Hua Huang Bing-Wen Soong Yi-Chung Lee |
| author_sort | Yi-Chu Liao |
| collection | DOAJ |
| description | Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT) type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atrophy of the hand muscles. The role of GARS mutations in patients with inherited neuropathies in Taiwan remains elusive.Mutational analyses of the coding regions of GARS were performed using targeted sequencing of 54 patients with molecularly unassigned axonal CMT, who were selected from 340 unrelated CMT patients. Two heterozygous mutations in GARS, p.Asp146Tyr and p.Met238Arg, were identified; one in each patient. Both are novel de novo mutations. The p.Asp146Tyr mutation is associated with a severe infantile-onset neuropathy and the p.Met238Arg mutation results in childhood-onset disability.GARS mutations are an uncommon cause of CMT in Taiwan. The p.Asp146Tyr and p.Met238Arg mutations are associated with early-onset axonal CMT. These findings broaden the mutational spectrum of GARS and also highlight the importance of considering GARS mutations as a disease cause in patients with early-onset neuropathies. |
| first_indexed | 2024-12-21T01:10:54Z |
| format | Article |
| id | doaj.art-416abf50fa6948d480d4ef71d7ebbe57 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-21T01:10:54Z |
| publishDate | 2015-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-416abf50fa6948d480d4ef71d7ebbe572022-12-21T19:20:56ZengPublic Library of Science (PLoS)PLoS ONE1932-62032015-01-01108e013342310.1371/journal.pone.0133423Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.Yi-Chu LiaoYo-Tsen LiuPei-Chien TsaiChia-Ching ChangYen-Hua HuangBing-Wen SoongYi-Chung LeeMutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT) type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atrophy of the hand muscles. The role of GARS mutations in patients with inherited neuropathies in Taiwan remains elusive.Mutational analyses of the coding regions of GARS were performed using targeted sequencing of 54 patients with molecularly unassigned axonal CMT, who were selected from 340 unrelated CMT patients. Two heterozygous mutations in GARS, p.Asp146Tyr and p.Met238Arg, were identified; one in each patient. Both are novel de novo mutations. The p.Asp146Tyr mutation is associated with a severe infantile-onset neuropathy and the p.Met238Arg mutation results in childhood-onset disability.GARS mutations are an uncommon cause of CMT in Taiwan. The p.Asp146Tyr and p.Met238Arg mutations are associated with early-onset axonal CMT. These findings broaden the mutational spectrum of GARS and also highlight the importance of considering GARS mutations as a disease cause in patients with early-onset neuropathies.http://europepmc.org/articles/PMC4526224?pdf=render |
| spellingShingle | Yi-Chu Liao Yo-Tsen Liu Pei-Chien Tsai Chia-Ching Chang Yen-Hua Huang Bing-Wen Soong Yi-Chung Lee Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease. PLoS ONE |
| title | Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease. |
| title_full | Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease. |
| title_fullStr | Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease. |
| title_full_unstemmed | Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease. |
| title_short | Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease. |
| title_sort | two novel de novo gars mutations cause early onset axonal charcot marie tooth disease |
| url | http://europepmc.org/articles/PMC4526224?pdf=render |
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