Rare CYLD Variants in Chinese Patients With Amyotrophic Lateral Sclerosis
Background: CYLD Lysine 63 Deubiquitinase gene (CYLD) was recently identified to be a novel causative gene for frontal temporal dementia (FTD)-amyotrophic lateral sclerosis (ALS). In the current study, we aimed to (1) systematically screen the mutations of CYLD in a large cohort of Chinese ALS patie...
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oai:doaj.org-article:b942514a7e2a4532b280c9518b84f8152021-11-12T05:57:36ZRare CYLD Variants in Chinese Patients With Amyotrophic Lateral Sclerosis1664-802110.3389/fgene.2021.740052https://doaj.org/article/b942514a7e2a4532b280c9518b84f8152021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.740052/fullhttps://doaj.org/toc/1664-8021Background: CYLD Lysine 63 Deubiquitinase gene (CYLD) was recently identified to be a novel causative gene for frontal temporal dementia (FTD)-amyotrophic lateral sclerosis (ALS). In the current study, we aimed to (1) systematically screen the mutations of CYLD in a large cohort of Chinese ALS patients, (2) study the genotype–phenotype correlation, and (3) explore the role of CYLD in ALS via rare variants burden analysis.Methods: A total of 978 Chinese sporadic ALS (sALS) patients and 46 familial ALS (fALS) patients were sequenced with whole-exome sequencing and analyzed rare variants in CYLD with minor allele frequency <0.1%.Results: In total, seven rare missense variants in CYLD have been identified in 7 (0.72%) patients among 978 sALS patients. Two (4.3%) rare missense variants were identified among the 46 fALS cases, in which one patient was diagnosed as having comorbidity of ALS and progressive supranuclear palsy (PSP). Moreover, the burden analysis indicated no enrichment of rare variants in CYLD among patients with ALS.Conclusion: In conclusion, our study extended the genotype and phenotype of CYLD in ALS, but the pathogenicity of these variants needs to be further verified. Moreover, burden analysis argued against the role of CYLD in the pathogenesis of ALS. More studies from different ethnicities would be needed.Xiaojing GuYongping ChenQianqian WeiYanbing HouBei CaoLingyu ZhangRuwei OuJunyu LinKuncheng LiuBi ZhaoHuifang ShangFrontiers Media S.A.articleCYLD lysine 63 deubiquitinase geneamyotrophic lateral sclerosismutation screeningphenotypeburden analysisGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021) |
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CYLD lysine 63 deubiquitinase gene amyotrophic lateral sclerosis mutation screening phenotype burden analysis Genetics QH426-470 |
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CYLD lysine 63 deubiquitinase gene amyotrophic lateral sclerosis mutation screening phenotype burden analysis Genetics QH426-470 Xiaojing Gu Yongping Chen Qianqian Wei Yanbing Hou Bei Cao Lingyu Zhang Ruwei Ou Junyu Lin Kuncheng Liu Bi Zhao Huifang Shang Rare CYLD Variants in Chinese Patients With Amyotrophic Lateral Sclerosis |
| description |
Background: CYLD Lysine 63 Deubiquitinase gene (CYLD) was recently identified to be a novel causative gene for frontal temporal dementia (FTD)-amyotrophic lateral sclerosis (ALS). In the current study, we aimed to (1) systematically screen the mutations of CYLD in a large cohort of Chinese ALS patients, (2) study the genotype–phenotype correlation, and (3) explore the role of CYLD in ALS via rare variants burden analysis.Methods: A total of 978 Chinese sporadic ALS (sALS) patients and 46 familial ALS (fALS) patients were sequenced with whole-exome sequencing and analyzed rare variants in CYLD with minor allele frequency <0.1%.Results: In total, seven rare missense variants in CYLD have been identified in 7 (0.72%) patients among 978 sALS patients. Two (4.3%) rare missense variants were identified among the 46 fALS cases, in which one patient was diagnosed as having comorbidity of ALS and progressive supranuclear palsy (PSP). Moreover, the burden analysis indicated no enrichment of rare variants in CYLD among patients with ALS.Conclusion: In conclusion, our study extended the genotype and phenotype of CYLD in ALS, but the pathogenicity of these variants needs to be further verified. Moreover, burden analysis argued against the role of CYLD in the pathogenesis of ALS. More studies from different ethnicities would be needed. |
| format |
article |
| author |
Xiaojing Gu Yongping Chen Qianqian Wei Yanbing Hou Bei Cao Lingyu Zhang Ruwei Ou Junyu Lin Kuncheng Liu Bi Zhao Huifang Shang |
| author_facet |
Xiaojing Gu Yongping Chen Qianqian Wei Yanbing Hou Bei Cao Lingyu Zhang Ruwei Ou Junyu Lin Kuncheng Liu Bi Zhao Huifang Shang |
| author_sort |
Xiaojing Gu |
| title |
Rare CYLD Variants in Chinese Patients With Amyotrophic Lateral Sclerosis |
| title_short |
Rare CYLD Variants in Chinese Patients With Amyotrophic Lateral Sclerosis |
| title_full |
Rare CYLD Variants in Chinese Patients With Amyotrophic Lateral Sclerosis |
| title_fullStr |
Rare CYLD Variants in Chinese Patients With Amyotrophic Lateral Sclerosis |
| title_full_unstemmed |
Rare CYLD Variants in Chinese Patients With Amyotrophic Lateral Sclerosis |
| title_sort |
rare cyld variants in chinese patients with amyotrophic lateral sclerosis |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/b942514a7e2a4532b280c9518b84f815 |
| work_keys_str_mv |
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