|
rs886039769
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We have screened a cohort of 26 patients with 46,XX (ovo)testicular DSD and identified three unrelated individuals with this NR5A1 variant (p.Arg92Trp), as well as one patient with a novel NR5A1 variant (c.779C>T; p.Ala260Val).
|
30350900 |
2019 |
|
rs886039769
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD).
|
27855412 |
2017 |
|
rs1173716957
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene.
|
24784881 |
2014 |
|
rs121913494
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reported novel candidate genes (BMPR1B, GNAS, GHR) and regions of copy number variants outside the expected DSD genotype-phenotype correlation, and determined a founder mutation (SRD5A2 p.R227Q) in patients with 5α-reductase deficiency.
|
31277073 |
2019 |
|
rs1478477850
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have screened a cohort of 26 patients with 46,XX (ovo)testicular DSD and identified three unrelated individuals with this NR5A1 variant (p.Arg92Trp), as well as one patient with a novel NR5A1 variant (c.779C>T; p.Ala260Val).
|
30350900 |
2019 |
|
rs200755477
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By looking at the genetic etiology of FA and DSD, we have identified p.[Arg798*];[Arg798*] mutation in FANCJ (OMIM #605882) gene responsible for FA and p.[Arg108*];[Arg1497Trp] in EFCAB6 (Gene #64800) gene responsible for DSD.
|
31124294 |
2019 |
|
rs2073043
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.P359S, p.N662S and p.H347Q variants are also reported with particularly high frequency of the p.359T- p.662G haplotype in the DSD patients.Severe undervirilization in XY newborns can reveal mutations of MAMLD1.
|
22479329 |
2012 |
|
rs41313406
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.P359S, p.N662S and p.H347Q variants are also reported with particularly high frequency of the p.359T- p.662G haplotype in the DSD patients.Severe undervirilization in XY newborns can reveal mutations of MAMLD1.
|
22479329 |
2012 |
|
rs62641609
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.P359S, p.N662S and p.H347Q variants are also reported with particularly high frequency of the p.359T- p.662G haplotype in the DSD patients.Severe undervirilization in XY newborns can reveal mutations of MAMLD1.
|
22479329 |
2012 |
|
rs748162844
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have screened a cohort of 26 patients with 46,XX (ovo)testicular DSD and identified three unrelated individuals with this NR5A1 variant (p.Arg92Trp), as well as one patient with a novel NR5A1 variant (c.779C>T; p.Ala260Val).
|
30350900 |
2019 |
|
rs9332964
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reported novel candidate genes (BMPR1B, GNAS, GHR) and regions of copy number variants outside the expected DSD genotype-phenotype correlation, and determined a founder mutation (SRD5A2 p.R227Q) in patients with 5α-reductase deficiency.
|
31277073 |
2019 |