Crossmark

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

Crossref DOI link: https://doi.org/10.1007/s00439-023-02555-z

Published Online: 2023-04-25

Published Print: 2023-07

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Koczkowska, Magdalena https://orcid.org/0000-0001-9451-8027
Chen, Yunjia

Xie, Jing

Callens, Tom

Gomes, Alicia

Wimmer, Katharina

Messiaen, Ludwine M.
Funding

Funding for this research was provided by:

Children's Tumor Foundation (the Isaac, Sadie Fuchs Genotype-Phenotype Study)

Department of Genetics, University of Alabama at Birmingham (Internat funds from the Medical Genomics Laboratory at the University of Alabama at Birmingham)

Narodowe Centrum Badań i Rozwoju (LIDER/45/0234/L-12/20/NCBR/2021)
License Information

Text and Data Mining valid from 2023-04-25

Version of Record valid from 2023-04-25
More Information

Article History

Received: 1 March 2023

Accepted: 6 April 2023

First Online: 25 April 2023

Declarations

:

: The authors have no relevant financial or non-financial interests to disclose.

: This study was approved by the UAB Institutional Review Board with the informed consent forms for clinical genetic testing collected from all individuals participating in this study and/or their parents/legal guardians.

: ClinVar, GeneReviews, Friedman, J.M. (2014). Neurofibromatosis 1, gnomAD,GraphPad,HGMD, HGVS, LOVD, MaxEntScan,NNSplice,OMIM, ProteinPaint,SpliceAl,SpliceSiteFinder-like,.

Document is current

Any future updates will be listed below