Table 1 Prevalence of top 5 gene mutation among participants
From: Next-generation sequencing based newborn screening and comparative analysis with MS/MS
TOP | Gene | Relevant Diseases /Phenotypes (Genetic Modes) | Number of Case with Mutations | Mutation Rate |
|---|---|---|---|---|
1 | FLG | 1. Ichthyosis Vulgaris (AD, AR) 2. Hereditary Atopic Dermatitis Type 2 (-) | 145 | 11.5% |
2 | GJB2 | Autosomal Recessive Deafness Type 1Â A (AR, AD) | 141 | 11.1% |
3 | UGT 1A1 | 1. Familial Transient Neonatal Hyperbilirubinemia (AD, AR) 2. Bilirubin, Serum Levels, Quantitative Trait Locus 1; BILIQTL1 (-) 3. Crigler-Najjar Syndrome Type 1 (AR) 4. Crigler-Najjar Syndrome Type 2 (AR) 5. Gilbert Syndrome (AR) | 126 | 10.0% |
4 | USH2A | 1. Usher Syndrome Type IIA (AR) 2. Retinitis Pigmentosa Type 39 (AR) | 92 | 7.3% |
5 | DUOX2 | Thyroid Hormone Disorder Type 6 (AR) | 83 | 6.6% |