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

Neurofibromatosis type 1 results from loss-of-function NF1 pathogenic variants (PVs). Up to 30% of all NF1 PVs disrupt mRNA splicing, including deep intronic variants. Here, we retrospectively investigated the spectrum of NF1 deep intronic PVs in a cohort of 8,090 unrelated individuals from the Univ...

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Detalles Bibliográficos
Autores principales: Koczkowska, Magdalena, Chen, Yunjia, Xie, Jing, Callens, Tom, Gomes, Alicia, Wimmer, Katharina, Messiaen, Ludwine M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329576/
https://www.ncbi.nlm.nih.gov/pubmed/37186028
http://dx.doi.org/10.1007/s00439-023-02555-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329576/
https://www.ncbi.nlm.nih.gov/pubmed/37186028
http://dx.doi.org/10.1007/s00439-023-02555-z

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