Figure 1.
Non-coding disease causing mutations in AR gene reported in AIS patients_
| AR Mutation | Mutation type and location within non-coding AR sequence | Phenotype (number of affected individuals and family history) | Inheritance | Reported by [ref] |
|---|---|---|---|---|
| c.-547C>T | SNV in 5′UTR | CAIS (n=2, unrelated cases) | Inherited | Hornig et al. [9] |
| c.-547C>T | SNV in 5′UTR | PAIS (n=1, no family history) | De novo, mosaic | This study |
| LINE-1 insertion at c.-268 | Insertion of >800 nucleotides in 5′UTR | PAIS (n=9; one family, 4 generations) | Inherited | Batista et al. [23] |
| с.2450–42G>A | Deep intronic SNV in intron 6 | PAIS (n=3; one family, 3 generations) | Inherited | Ono et al. [24] |
| с.2450–42G>A | Deep intronic SNV in intron 6 | PAIS (n=1, uncle with similar symptoms but without genetic test) | Not reported, presumable inherited | Kalinchenko et al. [25] |
| c.1769–11T>A | Deep intronic SNV in intron 2 | CAIS (n=3; one family, 3 generations, reported as PAIS but phenotype is more suggestive of CAIS, as described in [23]) | Inherited | Brüggenwirth et al. [26] |
| c.2450-118A>G | Deep intronic SNV in intron 6 | CAIS (n=2; one family, 2 generations) | Inherited | Känsäkoski et al. [27] |