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Table 2 Deleterious variant identification in DSD patients

From: Targeted next-generation sequencing identification of mutations in patients with disorders of sex development

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 reported [25, 26] . . . 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
  1. aminor allele depth; bratio of minor allele depth to total allele depth; cdeleterious; dnot determined; evariant of unknown significance