Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II.

Koczkowska, Magdalena; Chen, Yunjia; Xie, Jing; Callens, Tom; Gomes, Alicia; Wimmer, Katharina; Messiaen, Ludwine M

Koczkowska, Magdalena; Chen, Yunjia; Xie, Jing; Callens, Tom; Gomes, Alicia; Wimmer, Katharina; Messiaen, Ludwine M.

Afiliação

Koczkowska M; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35294, USA. magdalena.koczkowska@gumed.edu.pl.
Chen Y; 3P-Medicine Laboratory, Medical University of Gdansk, 80-211, Gdansk, Poland. magdalena.koczkowska@gumed.edu.pl.
Xie J; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35294, USA.
Callens T; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35294, USA.
Gomes A; Natera, Inc., San Carlos, CA, USA.
Wimmer K; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35294, USA.
Messiaen LM; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35294, USA.

Hum Genet ; 142(7): 849-861, 2023 Jul.

Article em En | MEDLINE | ID: mdl-37186028

Assuntos

Neurofibromatose 1; Humanos; Neurofibromatose 1/genética; Íntrons/genética; Estudos Retrospectivos; Éxons/genética; Fenótipo; Isoformas de Proteínas/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Observational_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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