|
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 |
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 |
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 |
The study included mutational analysis of NR5A1 in 30 individuals with 46,XY disorders of sex development, followed by functional studies of SF1 activity.
|
17200175 |
2007 |
|
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 |
SF-1/NR5A1 mutations are frequently found in 46,XY DSD individuals (9%) and manifest with a broad phenotype.
|
22549935 |
2012 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We have analyzed the gene encoding SF1 (NR5A1) in a cohort of 27 patients with 46,XY disorders of sex development (DSD) from the German network of DSD.
|
17694559 |
2008 |
|
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 |
To test the hypothesis that mutations in NR5A1 cause disorders of ovarian development and function, we sequenced NR5A1 in four families with histories of both 46,XY disorders of sex development and 46,XX primary ovarian insufficiency and in 25 subjects with sporadic ovarian insufficiency.
|
19246354 |
2009 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations of NR5A1 have been reported in 46,XY disorders of sex development and in 46,XX primary ovarian insufficiency.
|
20887963 |
2010 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father.
|
21163476 |
2011 |
|
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 |
GeneticVariation
|
group |
BEFREE |
More recently, heterozygous NR5A1 mutations have been identified in a substantial proportion of patients with 46,XY disorders of sex development (46,XY DSD) without adrenal insufficiency.
|
20595937 |
2010 |
|
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 |
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 |
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 |
Mutations in NR5A1 were observed in 5/77 (6.5%) cases of 46,XY DSD including hypospadias.
|
22028768 |
2011 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Patients with 46,XY DSD and NR5A1 mutations can produce sufficient testosterone for spontaneous virilization during puberty.
|
22474171 |
2012 |
|
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 |
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 |
GeneticVariation
|
group |
BEFREE |
NR5A1 mutations have been identified in patients with various forms of 46,XY disorders of sex development (DSD), including complete gonadal dysgenesis with or without adrenal insufficiency, mild testicular dysgenesis with ambiguous external genitalia or female external genitalia with clitoromegaly, and penoscrotal hypospadias.
|
21654157 |
2011 |
|
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 |