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A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family
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| Zeitschriftentitel: | Clinical Genetics |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , , , |
| In: | Clinical Genetics, 96, 2019, 2, S. 176-182 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Wang, Binghao Li, Xiaobo Huang, Shunxiang Zhao, Huadong Liu, Jun Hu, Zhengmao Lin, Zhiqiang Liu, Lei Xie, Yongzhi Jin, Qingwen Zhao, Huihui Tang, Beisha Niu, Qi Zhang, Ruxu Wang, Binghao Li, Xiaobo Huang, Shunxiang Zhao, Huadong Liu, Jun Hu, Zhengmao Lin, Zhiqiang Liu, Lei Xie, Yongzhi Jin, Qingwen Zhao, Huihui Tang, Beisha Niu, Qi Zhang, Ruxu |
|---|---|
| author |
Wang, Binghao Li, Xiaobo Huang, Shunxiang Zhao, Huadong Liu, Jun Hu, Zhengmao Lin, Zhiqiang Liu, Lei Xie, Yongzhi Jin, Qingwen Zhao, Huihui Tang, Beisha Niu, Qi Zhang, Ruxu |
| spellingShingle |
Wang, Binghao Li, Xiaobo Huang, Shunxiang Zhao, Huadong Liu, Jun Hu, Zhengmao Lin, Zhiqiang Liu, Lei Xie, Yongzhi Jin, Qingwen Zhao, Huihui Tang, Beisha Niu, Qi Zhang, Ruxu Clinical Genetics A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family Genetics (clinical) Genetics |
| author_sort |
wang, binghao |
| spelling |
Wang, Binghao Li, Xiaobo Huang, Shunxiang Zhao, Huadong Liu, Jun Hu, Zhengmao Lin, Zhiqiang Liu, Lei Xie, Yongzhi Jin, Qingwen Zhao, Huihui Tang, Beisha Niu, Qi Zhang, Ruxu 0009-9163 1399-0004 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1111/cge.13563 <jats:title>Abstract</jats:title><jats:p>Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies characterized by distal limb muscle wasting and weakness with no or minimal sensory abnormalities. To investigate the clinical and genetic features of dHMN caused by <jats:italic>WARS</jats:italic> mutations in mainland China, we performed Sanger sequencing of the coding and untranslated region (UTR) regions of <jats:italic>WARS</jats:italic> in 160 unresolved dHMN and Charcot‐Marie‐Tooth (CMT) index patients. We detected a novel heterozygous variant c.941A>G (p.Asp314Gly) of <jats:italic>WARS</jats:italic> in an index patient from an autosomal dominant dHMN family including five affected members over three generations. The variant completely co‐segregates with the dHMN phenotype in the family, and it was classified as likely pathogenic according to the American College of Medical Genetics and Genomics standards and guidelines. The clinical features included juvenile to adult onset (15‐23 years), distal wasting and weakness, minimal sensory disturbance and length‐dependent motor axonal degeneration with CMT examination score ranging from 6 to 10. Our report further confirms the role of <jats:italic>WARS</jats:italic> in dHMN and indicates that the variant c.941A>G (p.Asp314Gly) of <jats:italic>WARS</jats:italic> is related to a mild to moderate affected and later onset phenotype of dHMN.</jats:p> A novel <i>WARS</i> mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family Clinical Genetics |
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| title |
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
| title_unstemmed |
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
| title_full |
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
| title_fullStr |
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
| title_full_unstemmed |
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
| title_short |
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
| title_sort |
a novel <i>wars</i> mutation (p.asp314gly) identified in a chinese distal hereditary motor neuropathy family |
| topic |
Genetics (clinical) Genetics |
| url |
http://dx.doi.org/10.1111/cge.13563 |
| publishDate |
2019 |
| physical |
176-182 |
| description |
<jats:title>Abstract</jats:title><jats:p>Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies characterized by distal limb muscle wasting and weakness with no or minimal sensory abnormalities. To investigate the clinical and genetic features of dHMN caused by <jats:italic>WARS</jats:italic> mutations in mainland China, we performed Sanger sequencing of the coding and untranslated region (UTR) regions of <jats:italic>WARS</jats:italic> in 160 unresolved dHMN and Charcot‐Marie‐Tooth (CMT) index patients. We detected a novel heterozygous variant c.941A>G (p.Asp314Gly) of <jats:italic>WARS</jats:italic> in an index patient from an autosomal dominant dHMN family including five affected members over three generations. The variant completely co‐segregates with the dHMN phenotype in the family, and it was classified as likely pathogenic according to the American College of Medical Genetics and Genomics standards and guidelines. The clinical features included juvenile to adult onset (15‐23 years), distal wasting and weakness, minimal sensory disturbance and length‐dependent motor axonal degeneration with CMT examination score ranging from 6 to 10. Our report further confirms the role of <jats:italic>WARS</jats:italic> in dHMN and indicates that the variant c.941A>G (p.Asp314Gly) of <jats:italic>WARS</jats:italic> is related to a mild to moderate affected and later onset phenotype of dHMN.</jats:p> |
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| author | Wang, Binghao, Li, Xiaobo, Huang, Shunxiang, Zhao, Huadong, Liu, Jun, Hu, Zhengmao, Lin, Zhiqiang, Liu, Lei, Xie, Yongzhi, Jin, Qingwen, Zhao, Huihui, Tang, Beisha, Niu, Qi, Zhang, Ruxu |
| author_facet | Wang, Binghao, Li, Xiaobo, Huang, Shunxiang, Zhao, Huadong, Liu, Jun, Hu, Zhengmao, Lin, Zhiqiang, Liu, Lei, Xie, Yongzhi, Jin, Qingwen, Zhao, Huihui, Tang, Beisha, Niu, Qi, Zhang, Ruxu, Wang, Binghao, Li, Xiaobo, Huang, Shunxiang, Zhao, Huadong, Liu, Jun, Hu, Zhengmao, Lin, Zhiqiang, Liu, Lei, Xie, Yongzhi, Jin, Qingwen, Zhao, Huihui, Tang, Beisha, Niu, Qi, Zhang, Ruxu |
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| description | <jats:title>Abstract</jats:title><jats:p>Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies characterized by distal limb muscle wasting and weakness with no or minimal sensory abnormalities. To investigate the clinical and genetic features of dHMN caused by <jats:italic>WARS</jats:italic> mutations in mainland China, we performed Sanger sequencing of the coding and untranslated region (UTR) regions of <jats:italic>WARS</jats:italic> in 160 unresolved dHMN and Charcot‐Marie‐Tooth (CMT) index patients. We detected a novel heterozygous variant c.941A>G (p.Asp314Gly) of <jats:italic>WARS</jats:italic> in an index patient from an autosomal dominant dHMN family including five affected members over three generations. The variant completely co‐segregates with the dHMN phenotype in the family, and it was classified as likely pathogenic according to the American College of Medical Genetics and Genomics standards and guidelines. The clinical features included juvenile to adult onset (15‐23 years), distal wasting and weakness, minimal sensory disturbance and length‐dependent motor axonal degeneration with CMT examination score ranging from 6 to 10. Our report further confirms the role of <jats:italic>WARS</jats:italic> in dHMN and indicates that the variant c.941A>G (p.Asp314Gly) of <jats:italic>WARS</jats:italic> is related to a mild to moderate affected and later onset phenotype of dHMN.</jats:p> |
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| spelling | Wang, Binghao Li, Xiaobo Huang, Shunxiang Zhao, Huadong Liu, Jun Hu, Zhengmao Lin, Zhiqiang Liu, Lei Xie, Yongzhi Jin, Qingwen Zhao, Huihui Tang, Beisha Niu, Qi Zhang, Ruxu 0009-9163 1399-0004 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1111/cge.13563 <jats:title>Abstract</jats:title><jats:p>Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies characterized by distal limb muscle wasting and weakness with no or minimal sensory abnormalities. To investigate the clinical and genetic features of dHMN caused by <jats:italic>WARS</jats:italic> mutations in mainland China, we performed Sanger sequencing of the coding and untranslated region (UTR) regions of <jats:italic>WARS</jats:italic> in 160 unresolved dHMN and Charcot‐Marie‐Tooth (CMT) index patients. We detected a novel heterozygous variant c.941A>G (p.Asp314Gly) of <jats:italic>WARS</jats:italic> in an index patient from an autosomal dominant dHMN family including five affected members over three generations. The variant completely co‐segregates with the dHMN phenotype in the family, and it was classified as likely pathogenic according to the American College of Medical Genetics and Genomics standards and guidelines. The clinical features included juvenile to adult onset (15‐23 years), distal wasting and weakness, minimal sensory disturbance and length‐dependent motor axonal degeneration with CMT examination score ranging from 6 to 10. Our report further confirms the role of <jats:italic>WARS</jats:italic> in dHMN and indicates that the variant c.941A>G (p.Asp314Gly) of <jats:italic>WARS</jats:italic> is related to a mild to moderate affected and later onset phenotype of dHMN.</jats:p> A novel <i>WARS</i> mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family Clinical Genetics |
| spellingShingle | Wang, Binghao, Li, Xiaobo, Huang, Shunxiang, Zhao, Huadong, Liu, Jun, Hu, Zhengmao, Lin, Zhiqiang, Liu, Lei, Xie, Yongzhi, Jin, Qingwen, Zhao, Huihui, Tang, Beisha, Niu, Qi, Zhang, Ruxu, Clinical Genetics, A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family, Genetics (clinical), Genetics |
| title | A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
| title_full | A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
| title_fullStr | A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
| title_full_unstemmed | A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
| title_short | A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
| title_sort | a novel <i>wars</i> mutation (p.asp314gly) identified in a chinese distal hereditary motor neuropathy family |
| title_unstemmed | A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
| topic | Genetics (clinical), Genetics |
| url | http://dx.doi.org/10.1111/cge.13563 |