Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria
Background: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant skin disease. The mutation of the ADAR1 gene is the pathogenesis of this disorder. Aims: This study aimed to identify the mutations of the ADAR1 gene in two Chinese families with DSH. Methods and Materials: Eight pa...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Indian Journal of Dermatology |
| Subjects: | |
| Online Access: | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=4;spage=355;epage=358;aulast=Ning |
| _version_ | 1811220706952740864 |
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| author | Xiaoying Ning Shengxiang Xiao Yanfei Zhang |
| author_facet | Xiaoying Ning Shengxiang Xiao Yanfei Zhang |
| author_sort | Xiaoying Ning |
| collection | DOAJ |
| description | Background: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant skin disease. The mutation of the ADAR1 gene is the pathogenesis of this disorder. Aims: This study aimed to identify the mutations of the ADAR1 gene in two Chinese families with DSH. Methods and Materials: Eight patients from two Chinese families were diagnosed with DSH clinically. Blood samples were collected from the patients and unaffected individuals. Sanger sequencing for all polymerase chain reaction products of the whole coding regions of the ADAR1 gene was performed to identify the mutations. Mutation Taster software was used to predict the impact of the variant on the resultant protein. Results: The c.3358-3359insT (p.L1053fs-1092X) mutation in exon 12 was found in affected members of the pedigree1. In pedigree2, the c.3820-3821insG (p.G1207fs-1213X) mutation in exon 15 was found. These two mutations were not found in 100 unrelated healthy people. In this study, both mutations were damaged by the Mutation Taster software. Conclusions: We identified two novel frameshift mutations in the ADAR1 gene. Our study expands the database of ADAR1 gene mutations in DSH. |
| first_indexed | 2024-04-12T07:47:27Z |
| format | Article |
| id | doaj.art-2789b4a17ece445a82a8a187c345fb93 |
| institution | Directory Open Access Journal |
| issn | 0019-5154 1998-3611 |
| language | English |
| last_indexed | 2024-04-12T07:47:27Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Dermatology |
| spelling | doaj.art-2789b4a17ece445a82a8a187c345fb932022-12-22T03:41:41ZengWolters Kluwer Medknow PublicationsIndian Journal of Dermatology0019-51541998-36112022-01-0167435535810.4103/ijd.ijd_207_21Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica HereditariaXiaoying NingShengxiang XiaoYanfei ZhangBackground: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant skin disease. The mutation of the ADAR1 gene is the pathogenesis of this disorder. Aims: This study aimed to identify the mutations of the ADAR1 gene in two Chinese families with DSH. Methods and Materials: Eight patients from two Chinese families were diagnosed with DSH clinically. Blood samples were collected from the patients and unaffected individuals. Sanger sequencing for all polymerase chain reaction products of the whole coding regions of the ADAR1 gene was performed to identify the mutations. Mutation Taster software was used to predict the impact of the variant on the resultant protein. Results: The c.3358-3359insT (p.L1053fs-1092X) mutation in exon 12 was found in affected members of the pedigree1. In pedigree2, the c.3820-3821insG (p.G1207fs-1213X) mutation in exon 15 was found. These two mutations were not found in 100 unrelated healthy people. In this study, both mutations were damaged by the Mutation Taster software. Conclusions: We identified two novel frameshift mutations in the ADAR1 gene. Our study expands the database of ADAR1 gene mutations in DSH.http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=4;spage=355;epage=358;aulast=Ningadar1 genedyschromatosis symmetrica hereditariagenodermatose |
| spellingShingle | Xiaoying Ning Shengxiang Xiao Yanfei Zhang Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria Indian Journal of Dermatology adar1 gene dyschromatosis symmetrica hereditaria genodermatose |
| title | Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria |
| title_full | Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria |
| title_fullStr | Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria |
| title_full_unstemmed | Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria |
| title_short | Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria |
| title_sort | identification of two novel frameshift mutations of the adar1 gene in two chinese families with dyschromatosis symmetrica hereditaria |
| topic | adar1 gene dyschromatosis symmetrica hereditaria genodermatose |
| url | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=4;spage=355;epage=358;aulast=Ning |
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