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

// Wenxin Luo 1, * , Wangdong Xu 2, * , Lin Xia 3 , Dan Xie 3 , Lin Wang 4 , Zaipei Guo 5 , Yue Cheng 1 , Yi Liu 2 and Weimin Li 1 1 Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, PR China 2 Department of Rheumatology and Immunology, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, PR China 3 State Key Laboratory of Biotherapy and Collaborative Innovation Center for Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, PR China 4 Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, PR China 5 Department of Dermatology, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, PR China * Wenxin Luo and Wangdong Xu contributed equally to this work, and should be considered as the co-first author Correspondence to: Weimin Li, email: weimin003@163.com Keywords: atopic dermatitis, cataracts, mutation Received: November 07, 2016      Accepted: June 02, 2017      Published: July 31, 2017 ABSTRACT 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.