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Family-based whole exome sequencing of atopic dermatitis complicated with cataracts

BACKGROUND: Atopic dermatitis (AD) is a common skin disorder with elevated prevalence. Cataract induced by AD rarely occurs in adolescent and young adult patients, which is also called atopic cataract. Using whole exome sequencing, we aimed to explore genetic alterations among AD and atopic cataract...

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Autores principales: Luo, Wenxin, Xu, Wangdong, Xia, Lin, Xie, Dan, Wang, Lin, Guo, Zaipei, Cheng, Yue, Liu, Yi, Li, Weimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5601745/
https://www.ncbi.nlm.nih.gov/pubmed/28938649
http://dx.doi.org/10.18632/oncotarget.19739
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author Luo, Wenxin
Xu, Wangdong
Xia, Lin
Xie, Dan
Wang, Lin
Guo, Zaipei
Cheng, Yue
Liu, Yi
Li, Weimin
author_facet Luo, Wenxin
Xu, Wangdong
Xia, Lin
Xie, Dan
Wang, Lin
Guo, Zaipei
Cheng, Yue
Liu, Yi
Li, Weimin
author_sort Luo, Wenxin
collection PubMed
description BACKGROUND: Atopic dermatitis (AD) is a common skin disorder with elevated prevalence. Cataract induced by AD rarely occurs in adolescent and young adult patients, which is also called atopic cataract. Using whole exome sequencing, we aimed to explore genetic alterations among AD and atopic cataract. RESULT: We recruited a 19 year-old Chinese male with AD accompanied with cataracts, his father with AD and his mother without AD or cataract. Through analysis of the exomic sequence of the 3 individuals from the same family, we identified that with respect to AD, there were 162 genes mutated in both this patient and his father but not in his mother. In addition, we found 10 genes mutated in this patient only without in his parents according to cataract. CONCLUSION: This research suggests that coinheritance of mutations in these genes may correlate with AD, and the pathogenesis of AD complicated with cataracts was related to genetic factors.
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spelling pubmed-56017452017-09-21 Family-based whole exome sequencing of atopic dermatitis complicated with cataracts Luo, Wenxin Xu, Wangdong Xia, Lin Xie, Dan Wang, Lin Guo, Zaipei Cheng, Yue Liu, Yi Li, Weimin Oncotarget Research Paper BACKGROUND: Atopic dermatitis (AD) is a common skin disorder with elevated prevalence. Cataract induced by AD rarely occurs in adolescent and young adult patients, which is also called atopic cataract. Using whole exome sequencing, we aimed to explore genetic alterations among AD and atopic cataract. RESULT: We recruited a 19 year-old Chinese male with AD accompanied with cataracts, his father with AD and his mother without AD or cataract. Through analysis of the exomic sequence of the 3 individuals from the same family, we identified that with respect to AD, there were 162 genes mutated in both this patient and his father but not in his mother. In addition, we found 10 genes mutated in this patient only without in his parents according to cataract. CONCLUSION: This research suggests that coinheritance of mutations in these genes may correlate with AD, and the pathogenesis of AD complicated with cataracts was related to genetic factors. Impact Journals LLC 2017-07-31 /pmc/articles/PMC5601745/ /pubmed/28938649 http://dx.doi.org/10.18632/oncotarget.19739 Text en Copyright: © 2017 Luo et al. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License 3.0 (http://creativecommons.org/licenses/by/3.0/) (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Paper
Luo, Wenxin
Xu, Wangdong
Xia, Lin
Xie, Dan
Wang, Lin
Guo, Zaipei
Cheng, Yue
Liu, Yi
Li, Weimin
Family-based whole exome sequencing of atopic dermatitis complicated with cataracts
title Family-based whole exome sequencing of atopic dermatitis complicated with cataracts
title_full Family-based whole exome sequencing of atopic dermatitis complicated with cataracts
title_fullStr Family-based whole exome sequencing of atopic dermatitis complicated with cataracts
title_full_unstemmed Family-based whole exome sequencing of atopic dermatitis complicated with cataracts
title_short Family-based whole exome sequencing of atopic dermatitis complicated with cataracts
title_sort family-based whole exome sequencing of atopic dermatitis complicated with cataracts
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5601745/
https://www.ncbi.nlm.nih.gov/pubmed/28938649
http://dx.doi.org/10.18632/oncotarget.19739
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