Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China
Abstract Background Dyschromatosis symmetrica hereditaria (DSH;OMIM: #127400) is a rare autosomal dominant skin disease of hyperpigmented and hypopigmented macules on the dorsal aspects of the feet and hands. The adenosine deaminase RNA‐Specific (ADAR;OMIM: *146920) gene was identified as causing DS...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-10-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.905 |
| _version_ | 1797301108493778944 |
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| author | Peng Wang Shirong Yu Jianyong Liu Dezhi Zhang Xiaojing Kang |
| author_facet | Peng Wang Shirong Yu Jianyong Liu Dezhi Zhang Xiaojing Kang |
| author_sort | Peng Wang |
| collection | DOAJ |
| description | Abstract Background Dyschromatosis symmetrica hereditaria (DSH;OMIM: #127400) is a rare autosomal dominant skin disease of hyperpigmented and hypopigmented macules on the dorsal aspects of the feet and hands. The adenosine deaminase RNA‐Specific (ADAR;OMIM: *146920) gene was identified as causing DSH. Although more than 200 mutations are reported, no research has included the pedigrees of ethnic minorities in China. To investigate clinical features and genetic factors among multi‐ethnic families, seven multi‐ethnic pedigrees with DSH were collected for analysis of hereditary characteristics and ADAR mutations. Methods All 15 exons and exon–intron sequences of the ADAR gene were amplified and Sanger sequenced from 25 patients and 36 normal controls from seven multi‐ethnic DSH families with 100 healthy normal controls. Seven mutations were analyzed by Polyphen 2, SIFT and Provean. All mutations in ADAR with DSH were reviewed and genetic and clinical features were summarized for analysis. The ADEAMc domain may be a hot spot of ADAR mutations among patients with DSH. Results Seven novel mutations were identified in seven multi‐ethnic pedigrees: c.497delA(p.Arg105fs), c.3352C>T(p.Gln1058*) and c.3722delT(p.Ser1181fs) were found in three Uygur families with DSH; c.1330A>G(p.Val332Met) and c.2702A>T(p.His841Leu) were found in two Kazakh pedigrees and c.1176G>A(p.Lys326Glu) and c.2861G>A(p.Arg892His) in two Hui pedigrees. We summarized 203 different mutations of ADAR from people with DSH. Conclusions Seven novel mutations were identified in seven multi‐ethnic families with DSH. Our study expands the genetic spectrum of ADAR mutations in DSH. |
| first_indexed | 2024-03-07T23:16:39Z |
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| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:16:39Z |
| publishDate | 2019-10-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-1f7ef0831313471ab665469ab9be33412024-02-21T10:29:27ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-10-01710n/an/a10.1002/mgg3.905Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in ChinaPeng Wang0Shirong Yu1Jianyong Liu2Dezhi Zhang3Xiaojing Kang4Department of Dermatology People's Hospital of Xinjiang Uygur Autonomous Region Urumqi ChinaDepartment of Dermatology People's Hospital of Xinjiang Uygur Autonomous Region Urumqi ChinaDepartment of Dermatology People's Hospital of Xinjiang Uygur Autonomous Region Urumqi ChinaDepartment of Dermatology People's Hospital of Xinjiang Uygur Autonomous Region Urumqi ChinaDepartment of Dermatology People's Hospital of Xinjiang Uygur Autonomous Region Urumqi ChinaAbstract Background Dyschromatosis symmetrica hereditaria (DSH;OMIM: #127400) is a rare autosomal dominant skin disease of hyperpigmented and hypopigmented macules on the dorsal aspects of the feet and hands. The adenosine deaminase RNA‐Specific (ADAR;OMIM: *146920) gene was identified as causing DSH. Although more than 200 mutations are reported, no research has included the pedigrees of ethnic minorities in China. To investigate clinical features and genetic factors among multi‐ethnic families, seven multi‐ethnic pedigrees with DSH were collected for analysis of hereditary characteristics and ADAR mutations. Methods All 15 exons and exon–intron sequences of the ADAR gene were amplified and Sanger sequenced from 25 patients and 36 normal controls from seven multi‐ethnic DSH families with 100 healthy normal controls. Seven mutations were analyzed by Polyphen 2, SIFT and Provean. All mutations in ADAR with DSH were reviewed and genetic and clinical features were summarized for analysis. The ADEAMc domain may be a hot spot of ADAR mutations among patients with DSH. Results Seven novel mutations were identified in seven multi‐ethnic pedigrees: c.497delA(p.Arg105fs), c.3352C>T(p.Gln1058*) and c.3722delT(p.Ser1181fs) were found in three Uygur families with DSH; c.1330A>G(p.Val332Met) and c.2702A>T(p.His841Leu) were found in two Kazakh pedigrees and c.1176G>A(p.Lys326Glu) and c.2861G>A(p.Arg892His) in two Hui pedigrees. We summarized 203 different mutations of ADAR from people with DSH. Conclusions Seven novel mutations were identified in seven multi‐ethnic families with DSH. Our study expands the genetic spectrum of ADAR mutations in DSH.https://doi.org/10.1002/mgg3.905adenosine deaminase acting on RNAChinadyschromatosis symmetrica hereditariamutation |
| spellingShingle | Peng Wang Shirong Yu Jianyong Liu Dezhi Zhang Xiaojing Kang Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China Molecular Genetics & Genomic Medicine adenosine deaminase acting on RNA China dyschromatosis symmetrica hereditaria mutation |
| title | Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China |
| title_full | Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China |
| title_fullStr | Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China |
| title_full_unstemmed | Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China |
| title_short | Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China |
| title_sort | seven novel mutations of adar in multi ethnic pedigrees with dyschromatosis symmetrica hereditaria in china |
| topic | adenosine deaminase acting on RNA China dyschromatosis symmetrica hereditaria mutation |
| url | https://doi.org/10.1002/mgg3.905 |
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