|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
|
31338750 |
2019 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Nuclear receptor subfamily 5 group A member 1/Steroidogenic factor 1 (NR5A1; SF-1; Ad4BP) mutations cause 46,XY disorders of sex development (DSD), with phenotypes ranging from developmentally mild (e.g., hypospadias) to severe (e.g., complete gonadal dysgenesis).
|
30067310 |
2018 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
BEFREE |
Literature search confirmed twelve other cases of this scenario, namely, severe under-virilization in utero followed by spontaneous virilization around puberty in NR5A1-related 46,XY DSD.
|
30224582 |
2018 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
BEFREE |
Our results suggest that the broad phenotype in these heterozygous NR5A1 46,XY DSD subjects may well be explained by an oligogenic mode of inheritance, in which multiple hits, individually non-deleterious, may contribute to a DSD phenotype unique to each heterozygous SF-1/NR5A1 individual.
|
29891883 |
2018 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A total of four novel and three recurrent NR5A1 variants were identified in seven 46, XY DSD patients.
|
30103258 |
2018 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
NR5A1 exons sequencing identified in six 46,XY DSD patients six novel mutations: p.T40R, p.T47C, p.G328W, p.A351E, p.R427W, and p.Q460R.
|
29935645 |
2018 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In the present study, we describe the impact of five NR5A1 variants (three novel: p.Arg39Cys, p.Ser32Asn, and p.Lys396Argfs*34; and two previously described: p.Cys65Tyr and p.Cys247*) on protein function, identified in seven patients with 46,XY DSD.
|
29027717 |
2018 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency.
|
29151085 |
2018 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia.
|
28459839 |
2017 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In this report, we describe a novel heterozygous c.814A > C (p. T272P) NR5A1 mutation in a patient with 46, XY DSD without adrenal insufficiency.
|
27135758 |
2017 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We provide new evidence of this involvement, describing a novel heterozygous non-sense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia.
|
28032338 |
2017 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
BEFREE |
Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD.
|
27490115 |
2017 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The NR5A1 p.Arg92Gln variant, which has thus far only been seen in a family with 46,XY DSD, most likely contributes to the ovotesticular DSD in this case.
|
27855412 |
2017 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
For the clinical utility of NR5A1 gene mutations, more comprehensive studies with large 46,XY DSD patient series in different populations are suggested.
|
26260161 |
2016 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function mutations of NR5A1 are a relatively common cause of 46,XY DSD.
|
26139438 |
2015 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.
|
26681172 |
2015 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
NR5A1 gene mutations are a relatively frequent cause of 46,XY DSD in humans.
|
24434652 |
2014 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
BEFREE |
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.
|
24591553 |
2014 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
BEFREE |
Our data reinforce that NR5A1 analysis must also be performed in 46,XY DSD patients with normal testosterone levels without AR mutations.
|
24405868 |
2014 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We screened for NR5A1 mutations in a cohort of 34 patients with 46,XY DSD using PCR-based sequencing.
|
23095176 |
2013 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Based on this finding, we screened patients with unexplained 46,XY DSD (n = 11), proximal hypospadias (n = 21) and 46,XX POF (n = 36) for possible NR5A1 copy-number variations (CNVs) via multiplex ligation-dependent probe amplification (MLPA), but did not identify any additional CNVs involving NR5A1.
|
23918653 |
2013 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In order to ascertain whether or not the histological features were the characteristics of NR5A1 mutations, we screened the testicular histology of 242 patients with 46,XY DSD and then subsequently assessed NR5A1 mutations.
|
23969951 |
2013 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our finding supports evaluation of NR5A1 mutations in 46,XY DSD patients with a range of testosterone levels.
|
22909003 |
2013 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
BEFREE |
We report a novel microdeletion encompassing NR5A1 in a patient with 46,XY DSD and developmental delay.
|
24056159 |
2013 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
SF-1/NR5A1 mutations are frequently found in 46,XY DSD individuals (9%) and manifest with a broad phenotype.
|
22549935 |
2012 |