The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification
Abstract Background Exon deletions are generally considered pathogenic, particularly when they are located out of frame. Here, we describe a pediatric, female patient presenting with hypercalcemia and a small cell carcinoma of the ovary, hypercalcemic type, and carrying a germline de novo SMARCA4 ex...
Main Authors: | Anna Byrjalsen, Ulrik Stoltze, Mana Mehrjouy, Jane Hübertz Frederiksen, Mads Bak, Ulf Birkedal, Henrik Hasle, Anne‐Marie Gerdes, Kjeld Schmiegelow, Karin Wadt, Thomas van Overeem Hansen |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2023-10-01
|
Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.2232 |
Similar Items
-
Analysis of SMARCA4 and SMARCA2 Loss in Lung Sarcomatoid Carcinomas
by: Halide Nur URER, et al.
Published: (2023-05-01) -
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49
by: Mario Abaji, et al.
Published: (2022-07-01) -
Thoracic SMARCA4-deficient undifferentiated tumor
by: Jiapeng Jiang, et al.
Published: (2023-04-01) -
SMARCA4-deficient tumors in the adrenal gland and small intestines: A rare case report
by: Akira Kambe, MD, et al.
Published: (2024-02-01) -
An aggressive case of a thoracic undifferentiated SMARCA4‐deficient tumor with extensive pleural involvement
by: Paul F. Hanona, et al.
Published: (2024-04-01)