Table 2 Carrier frequencies for autosomal diseases in 1915 couples (3830 individuals).
Inheritance patterns | Autosomal diseases | Genes | Number of pathogenic variants | Carrier frequencies (1/n) | Number of at-risk couples |
|---|---|---|---|---|---|
Autosomal recessive | Genetic deafness | GJB2 | 141 | 27 | 6 |
Congenital adrenal hyperplasia | CYP21A2 | 114 | 34 | 1 | |
Hepatolenticular degeneration | ATP7B | 100 | 38 | 0 | |
Genetic deafness | SLC26A4 | 91 | 42 | 0 | |
Spinal muscular atrophy | SMN1 | 85 | 45 | 4 | |
α-Thalassemia | HBA | 84 | 46 | 0 | |
Phenylketonuria | PAH | 69 | 56 | 1 | |
Methylmalonic acidemia with homocystinuria Cb1C | MMACHC | 41 | 93 | 1 | |
Tetrahydrobiopterin deficiency | PTS | 21 | 182 | 0 | |
Methylmalonic acidemia | MMUT | 11 | 348 | 0 | |
β-Thalassemia | HBB | 10 | 383 | 0 | |
Thrombocytopenia-absent radius syndrome | RBM8A | 0 | 0 | 0 | |
Hypotonia-cystinuria syndrome | SLC3A1, PREPL | 0 | 0 | 0 | |
X-linked recessive | X-linked ichthyosis | STS | 5 | 383 | 5 |
Duchenne muscular dystrophy | DMD | 2 | 958 | 2 | |
Int22h1/Int22h2 mediated chromosome Xq28 duplication syndrome | Xq28 | 2 | 958 | 2 | |
Fragile X syndrome | FMR1 | 1a | 1915 | 1 | |
Hemophilia A | F8 | 1 | 1915 | 1 | |
Xp11.22 microduplication syndrome | HUWE1 | 1 | 1915 | 1 | |
Pelizaeus-Merzbacher disease | PLP1 | 0 | 0 | 0 | |
Mitochondrial inheritance | Genetic deafness | MT-RNR1 | 6 | 638 | 5 |
In total | 785 | 4.9 | 30 |
