Sample | Gene | Transcript | Nucleotide change | Protein change | Zygosity | Novel | MADa/Rb | Condel | phyloP | Origin | Interpretation |
---|---|---|---|---|---|---|---|---|---|---|---|
(1) Mutations identified in 46,XY DSD cases | |||||||||||
DSD01 | SRY | NM_003140.1 | c.230_231insA | p.Lys77fs*27 | Hem | novel | 127/1 | . | . | de novo | Likely pathogenic |
DSD07 | NR0B1 | NM_000475.4 | c.273C>G | p.Tyr91* | Hem | novel | 68/0.83 | . | . | mat | Pathogenic |
DSD09-1 | AR | NM_000044.3 | c.2158G>A | p.Ala720Thr | Hem | novel | 154/1 | Dc | 5.094 | mat | VUSe |
DSD09-2 | AR | NM_000044.3 | c.2158G>A | p.Ala720Thr | Hem | novel | 131/0.98 | D | 5.094 | mat | VUS |
DSD13 | CYP17A1 | NM_000102.3 | c.297 + 2T>C | . | Hom | reported [28] | 189/0.99 | . | . | NDd | Pathogenic |
DSD14 | AR | NM_000044.3 | c.2359C>T | p.Arg787* | Hem | reported [29] | 142/0.99 | . | . | ND | Pathogenic |
DSD15 | NR0B1;GK | NM_000475.4; NM_000167.5 | Duplication containing Chr X: 30322539-30749577 | . | Het | . | . | . | ND | Pathogenic | |
DSD17 | AR | NM_000044.3 | c.174_175insTAGCAGCAGCAGCAG | p.Gln59* | Hem | reported [30] | 49/0.96 | . | . | mat | Pathogenic |
DSD18 | AR | NM_000044.3 | c.1825A>G | p.Arg609Gly | Hem | novel | 126/1 | D | 1.333 | mat | VUS |
DSD20 | AR | NM_000044.3 | c.2057_2065dupTGTGTGCTG | p.Val686_Ala688dup | Hem | novel | 110/0.98 | . | . | mat | VUS |
(2) Mutations identified in 46,XX DSD cases | |||||||||||
DSD04 | CHD7 | NM_017780.3 | c.7389delA | p.K2464Sfs*39 | Het | novel | 138/0.5 | . | . | de novo | Likely pathogenic |
DSD08 | SRY | NM_003140.1 | . | Positive | Hem | reported [31] | . | . | . | de novo | Pathogenic |
(3) Only one Mutation identified | |||||||||||
DSD02-1 | SRD5A2 | NM_000348.3 | c.737G>A | p.Arg246Gln | Het | reported [32] | 70/0.48 | . | . | mat | Pathogenic |
DSD21 | SRD5A2 | NM_000348.3 | c.680G>A | p.Arg227Gln | Het | reported [33] | 102/0.43 | . | . | mat | Pathogenic |