Key result
The PANESS bioinformatics pipeline identified a homozygous ATP2A1 variant causing aberrant splicing in a family with a myotonic disorder, expanding the phenotypic spectrum beyond Brody myopathy.
Why the study?
Pathogenic mutations causing aberrant splicing are often difficult to detect because standard NGS analysis focuses on canonical splice sites.
Population
A family with a myotonic disorder
Design
Bioinformatics pipeline development and pilot study with functional validation and Drosophila disease modeling
Authors
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May support ATP2A1 testing in atypical myotonia; leaves open pipeline generalizability beyond this family.
A novel bioinformatics pipeline successfully identified a cryptic ATP2A1 splice site mutation in a family with myotonia, expanding the phenotypic spectrum beyond classic Brody myopathy.
Bruels et al. (2019) studied Myotonic disorder. PANESS bioinformatics pipeline was evaluated on Identification of pathogenic mutations causing aberrant splicing. The PANESS bioinformatics pipeline identified a homozygous ATP2A1 variant causing aberrant splicing in a family with a myotonic disorder, expanding the phenotypic spectrum beyond Brody myopathy.
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