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.

Qiu, Cong; Li, Chengyan; Tong, Xiaoyun; Dai, Luoyang; Liu, Wenda; Xie, Yulie; Zhang, Qimei; Yang, Guohua; Li, Tao

Qiu, Cong; Li, Chengyan; Tong, Xiaoyun; Dai, Luoyang; Liu, Wenda; Xie, Yulie; Zhang, Qimei; Yang, Guohua; Li, Tao.

Afiliação

Qiu C; Department of Neurology, Renmin Hospital of Wuhan University, Wuhan, Hubei, China.
Li C; Department of Neurology, Renmin Hospital of Wuhan University, Wuhan, Hubei, China.
Tong X; Department of Neurology, Renmin Hospital of Wuhan University, Wuhan, Hubei, China.
Dai L; Department of Neurology, Renmin Hospital of Wuhan University, Wuhan, Hubei, China.
Liu W; Demonstration Center for Experimental Basic Medicine Education of Wuhan University, Wuhan, Hubei, China.
Xie Y; Demonstration Center for Experimental Basic Medicine Education of Wuhan University, Wuhan, Hubei, China.
Zhang Q; Central hospital of Yichang City, The First Clinical Medical College of Three Gorges University, Yichang, Hubei, China.
Yang G; Demonstration Center for Experimental Basic Medicine Education of Wuhan University, Wuhan, Hubei, China.
Li T; Department of Neurology, Renmin Hospital of Wuhan University, Wuhan, Hubei, China.

Mol Genet Genomic Med ; 8(10): e1410, 2020 10.

Article em En | MEDLINE | ID: mdl-32735081

Assuntos

Degradação do RNAm Mediada por Códon sem Sentido; Splicing de RNA; Proteína 1 do Complexo Esclerose Tuberosa/genética; Esclerose Tuberosa/genética; Adulto; Feminino; Mutação da Fase de Leitura; Células HEK293; Células HeLa; Humanos; Linhagem; RNA Helicases/genética; RNA Helicases/metabolismo; Transativadores/genética; Transativadores/metabolismo; Esclerose Tuberosa/patologia; Proteína 1 do Complexo Esclerose Tuberosa/metabolismo

Palavras-chave

TSC1; MINI-gene; NMD; PTC; UPF1; frameshift mutation; tuberous sclerosis complex

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esclerose Tuberosa / Splicing de RNA / Degradação do RNAm Mediada por Códon sem Sentido / Proteína 1 do Complexo Esclerose Tuberosa Tipo de estudo: Etiology_studies Limite: Adult / Female / Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China

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