Table 2 Prevalence in popular genes mutation among participants
From: Next-generation sequencing based newborn screening and comparative analysis with MS/MS
| Â | Gene | Relevant Diseases /Phenotypes (Genetic Modes) | Number of Case with Mutations | Mutation Rate |
|---|---|---|---|---|
1 | HBA | Alpha-Thalassemia, also known as α-Thalassemia | 63 | 5.0% |
2 | SMN1 | Spinal Muscular Atrophy (AR) | 42 | 3.3% |
3 | PAH | Phenylketonuria (AR) | 26 | 2.1% |
4 | DMD | 1. Duchenne Muscular Dystrophy (X-linked recessive) 2. Becker Muscular Dystrophy (XLR) 3. Dilated Cardiomyopathy Type 3B (XL) | 24 | 1.9% |
5 | HBB | Beta-Thalassemia, also known as β-Thalassemia | 15 | 1.2% |