A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1

A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1

Abstract Background NOTCH1 is associated with two disorders of vascular development, Adams-Oliver Syndrome 5 (AOS5) and aortic valve disease 1 (AOVD1). Here we report a disease-causing variant in NOTCH1 that has a previously undemonstrated effect on splicing. Additionally, we found that the proband...

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Bibliographic Details
Main Authors: Joseph Farris, Camila Dergam-Larson, Madeline Lopour, Kahlen Darr, Lisa A. Schimmenti, Brittni A. Scruggs, Laura J. Lambert, Eric W. Klee
Format: Article
Language:English
Published: BMC 2025-05-01
Series:BMC Medical Genomics
Subjects:
NOTCH1
Adams-oliver syndrome
Familial exudative vitreoretinopathy
Rare disease
Splice variant
Online Access:https://doi.org/10.1186/s12920-025-02160-1
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