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Table 1 Molecular basis of 36 Chinese 46, XY DSD patients and in-silico analyses of AR variants

From: Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants

No cDNA Protein Functional domain SIFT Poly Phen2 Mutation taster ACGM classification Other gene mutations Definite diagnosis
Pre-functional assay Post-functional assay
1 c.2719 A>G p.I907Va LBD T B DC VUS Likely pathogenic N PAIS
2 c.2719 A>G p.I907Va LBD       N PAIS
3 c.2636T>G p.F879Ca LBD Dele D DC VUS Likely pathogenic DGKK p.A106T(c.316 C>T); EGF p.I6V(c.16 A>G); FKBP4 p.L356F(c.1066 C>T); GJA4 p.R243W(c.727 C>T) PAIS
4 c.2636T>G p.F879Ca LBD       N PAIS
5 c.1762 G>C p.A588Pa DBD Dele D DC VUS Likely pathogenic N CAIS
6 c.1762 G>C p.A588Pa DBD       N CAIS
7 c.1762 G>C p.A588Pa DBD       N CAIS
8 c.1762 G>C p.A588Pa DBD       N CAIS
9 c.2435T>A p.L812Qa LBD Dele D DC VUS Likely pathogenic N CAIS
10 c.1768 G>C p.G590Ra,b DBD Dele D DC VUS   BMP4 p.R269Q(c.806 C>T); POR p.G626S(c.1876 G>A)
MAP3K1 p.V889L(c.2665 G>C)
PAIS
11 c.2281 A>T p.R761Wa LBD Dele D DC VUS Likely pathogenic N PAIS
12 c.368_369 ins T c.368_369 ins Ta      VUS pathogenic N CAIS
13 c.884T>C p.L295Pa NTD(Tau-1) Dele D DC VUS Likely benign NR5A1 p.T29K(c.86 C>A); MYH6 p.A1411T(c.4231 C>T) NR5A1
14 c.1822 C>T p.R608X     A Pathogenic   N CAIS
15 c.2667 C>T p.S889S LBD     Likely benign   SRD5A2 p.V89L(c.264 G>C) (SNP) PAIS
16 c.2667 C>T p.S889S LBD       N PAIS
17 c.2521 C>T p.R841C LBD Dele D A Likely pathogenic   CBX2 p.G185E(c.554 G>A) PAIS
18 c.2521 C>T p.R841C LBD        PAIS
19 c.2521 C>T p.R841C LBD        PAIS
20 c.1175 C>G c.2521 C>T p.P392R; p.R841C NTD(Tau-5); LBD Dele D DC VUS   ESR1 p.P146Q(c.437 C>A) PAIS
21 c.2522 G>A p.R841H LBD Dele D A Likely pathogenic   N CAIS
22 c.2522 G>A p.R841H LBD       N PAIS
23 c.2522 G>A p.R841H LBD       N PAIS
24 c.2437 C>T p.L813F LBD T B DC Likely pathogenic   N PAIS
25 c.2437 C>T p.L813F LBD       N PAIS
26 c.528 C>A p.S176R NTD(Tau-1) Dele D DC VUS   POR p.E119Q(c.357 G>C);GJA4 p.R243W(c.727 C>T) PAIS
27 c.528 C>A p.S176R NTD(Tau-1)       N PAIS
28 c.528 C>A p.S176R NTD(Tau-1)       SRD5A2 p.R227Q(c.680 G>A) PAIS
29 c.2612 C>T p.A871V LBD T B DC Likely pathogenic   BMP7 p.T251M(c.C752T) PAIS
30 c.2057T>C p.V686A LBD T B DC VUS   N PAIS
31 c.2227 A>G p.M743V LBD Dele P DC VUS   PHF6 p.N147S(c.440A>G) PAIS
32 c.2710 G>A p.V904M LBD Dele P DC VUS   N CAIS
33 c.1846 C>G p.R616G DBD Dele D DC Likely pathogenic   N PAIS
34 c.2104 C>T p.L702F LBD Dele D DC Likely pathogenic   N CAIS
35 c.1739 G>T p.C580F DBD Dele D A Likely pathogenic   N PAIS
36 exon 2–8 del exon 2–8 del      pathogenic   BMP2 p.R131S(c.A393T) CAIS
  1. LBD ligand-binding domain, DBD DNA-binding domain, NTD N-terminal domain, Tau transcription activation units, SIFT Sorting Intolerant From Tolerant, T tolerated, Dele deleterious, B benign, D probably damaging, P possibly damaging, DC disease causing, A disease causing automatic, ACMG American College of Medical Genetics and Genomics, VUS variant of uncertain significance, PAIS partial androgen insensitive syndrome, CAIS complete androgen insensitive syndrome, NR5A1 nuclear receptor subfamily 5 Group A member 1
  2. aNovel mutation
  3. bMosaic mutation