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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