Article
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Human mutation - 1 Dec 2022
Ye Zimeng, Lin Sufang, Zhao Xia, Bennett Mark F, Brown Natasha J, Wallis Mathew, Gao Xinyi, Sun Li, Wu Jiarui, Vedururu Ravikiran, Witkowski Tom, Gardiner Fiona, Stutterd Chloe, Duan Jing, Mullen Saul A, McGillivray George, Bodek Simon, Valente Giulia, Reagan Matthew, Yao Yi, Li Lin, Chen Li, Boys Amber, Adikari Thiuni N, Cao Dezhi, Hu Zhanqi, Beshay Victoria, Zhang Victor W, Berkovic Samuel F, Scheffer Ingrid E, Liao Jianxiang, Hildebrand Michael S
Abstract excerpt
Tuberous sclerosis complex (TSC) is a multi-system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%-15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contribution of low-level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with TSC. Thirty-one sporadic TSC patients negative on routine testing and...
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