A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense‐mediated mRNA degradation (NMD) simultaneously in a Chinese family

A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense‐mediated mRNA degradation (NMD) simultaneously in a Chinese family

Abstract Background Tuberous sclerosis complex (TSC), belongs to autosomal dominant genetic disorder, which affects multiple organ systems in the body, including the skin, brain, lungs, kidneys, liver, and eyes. Mutations in TSC1 or TSC2 was proved to be associated with these conditions. Methods Gen...

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Bibliographic Details
Main Authors: Cong Qiu, Chengyan Li, Xiaoyun Tong, Luoyang Dai, Wenda Liu, Yulie Xie, Qimei Zhang, Guohua Yang, Tao Li
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
frameshift mutation
MINI‐gene
NMD
PTC
TSC1
tuberous sclerosis complex
Online Access:https://doi.org/10.1002/mgg3.1410

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