A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.

Abdelwahed, Mayssa; Touraine, Renaud; Ben-Rhouma, Bochra; Dhieb, Dhoha; Mars, Manel; Kammoun, Khawla; Hachicha, Jamil; Triki, Chahnez; Kamoun, Hassen; Keskes-Ammar, Leila; Belguith, Neila

Abdelwahed, Mayssa; Touraine, Renaud; Ben-Rhouma, Bochra; Dhieb, Dhoha; Mars, Manel; Kammoun, Khawla; Hachicha, Jamil; Triki, Chahnez; Kamoun, Hassen; Keskes-Ammar, Leila; Belguith, Neila.

Afiliação

Abdelwahed M; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Touraine R; Molecular Genetics Laboratory, STB Reference Centre, Saint Etienne, France.
Ben-Rhouma B; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Dhieb D; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Mars M; Renal Pathology Unit, UR12ES14, Nephrology Department Hedi Chaker Hospital, Sfax, Tunisia.
Kammoun K; Renal Pathology Unit, UR12ES14, Nephrology Department Hedi Chaker Hospital, Sfax, Tunisia.
Hachicha J; Renal Pathology Unit, UR12ES14, Nephrology Department Hedi Chaker Hospital, Sfax, Tunisia.
Triki C; Child Neurology Department, CHU Hedi Chaker Hospital, Sfax, Tunisia.
Kamoun H; Medical Genetics Department, Hedi Chaker Hospital, Sfax, Tunisia.
Keskes-Ammar L; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Belguith N; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.

IUBMB Life ; 71(12): 1937-1945, 2019 12.

Article em En | MEDLINE | ID: mdl-31317616

Assuntos

Mutação; Proteína 2 do Complexo Esclerose Tuberosa/genética; Esclerose Tuberosa/genética; Adolescente; Simulação por Computador; Éxons; Feminino; Humanos; Íntrons; Masculino; Isoformas de Proteínas/genética; Splicing de RNA; Esclerose Tuberosa/etiologia

Palavras-chave

TSC2 gene; in silico prediction; mRNA analysis; novel splice site mutation; tuberous sclerosis complex (TSC) syndrome

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esclerose Tuberosa / Proteína 2 do Complexo Esclerose Tuberosa / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Female / Humans / Male Idioma: En Revista: IUBMB Life Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Tunísia

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google