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] |