Table 3 Prevalence of gene mutations classified as pathogenic or likely pathogenic
From: Next-generation sequencing based newborn screening and comparative analysis with MS/MS
TOP | Gene | Relevant Diseases /Phenotypes (Genetic Modes) | Number of Case | Prevalence among all cases | Prevalence among all participants |
|---|---|---|---|---|---|
1 | UGT1A1 | 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) | 95 | 36.5% | 7.5% |
2 | FLG | 1. Ichthyosis Vulgaris (AD, AR) 2. Hereditary Atopic Dermatitis Type 2 (-) | 91 | 35.0% | 7.2% |
3 | GJB2 | Autosomal Recessive Deafness Type 1Â A (AR, AD) | 15 | 5.8% | 1.2% |
4 | MEFV | 1. Familial Mediterranean Fever (AR) 2. Acute Febrile Neutrophilic Dermatosis; AFND (AD) 3. Autosomal Dominant Familial Mediterranean Fever (AD) | 8 | 3.1% | 0.6% |
5 | G6PD | Glucose-6-Phosphate Dehydrogenase Deficiency (XL) | 7 | 2.7% | 0.6% |