Table 2.
Top ten AR diseases detected by ECS panel with the highest carrier rate
| Disease | Gene | N | Carrier frequency (%) | Most common variation |
|---|---|---|---|---|
| DFNB4 | SLC26A4 | 78 | 3.08 | c.919-2A > G |
| DFNB1A | GJB2 | 71 | 2.81 | c.235del (p.Leu79Cysfs*3) |
| Wilson disease | ATP7B | 65 | 2.57 | c.2333G > T (p.Arg778Leu) |
| Krabbe disease | GALC | 60 | 2.37 | c.1901 T > C (p.Leu634Ser) |
| PKU | PAH | 54 | 2.13 | c.728G > A (p.Arg243Gln) |
| MMA, cblC type | MMACHC | 53 | 2.09 | c.609G > A (p.Trp203*) |
| SMA | SMN1 | 43 | 1.70 | Exon7 Del |
| α-Thalassemia | HBA1、HBA2 | 36 | 1.42 | − α3.7 |
| PCD | SLC22A5 | 32 | 1.26 | c.1400C > G (p.Ser467Cys) |
| Sitosterolemia | ABCG5、ABCG8 | 29 | 1.15 | ABCG5: c.1336C > T (p.Arg446*) |
DFNB4 autosomal recessive deafness 4, with enlarged vestibular aqueduct, DFNB1A autosomal recessive deafness 1A, PKU phenylketonuria, MMA methylmalonic aciduria and homocystinuria, SMA spinal muscular atrophy, PCD primary carnitine deficiency, DMD Duchenne muscular dystrophy, Del deletion