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A New Class of Pathogenic Non-Coding Variants in GLA
Yujing Yuan1, Xinyu Zhang1, Chen Ling1
1Department of Neurology, Peking University First Hospital, Beijing 100034, China.
Long-read sequencing (LRS) identified novel non-coding variants in two Fabry disease (FD) patients, revealing new genetic causes for the condition. This advanced technique aids in diagnosing complex cases missed by conventional genetic testing.
Area of Science:
- Genetics
- Molecular Biology
- Medical Diagnostics
Background:
- Fabry disease (FD) presents diverse clinical symptoms, making diagnosis challenging, especially for non-classic forms.
- Genetic testing for the alpha-galactosidase A (GLA) gene is crucial for FD diagnosis and genetic counseling.
- Conventional methods like Sanger sequencing and short-read next-generation sequencing (NGS) can miss deep intronic, complex, or large variants.
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