Hypospadias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.
|
29332064 |
2017 |
Hypospadias
|
0.200 |
GeneticVariation
|
disease |
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 |
Hypospadias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NR5A1 gene, which encodes the steroidogenic factor 1 (SF1), are responsible for different phenotypes of disorders of sex development (DSD), such as bilateral anorchia and hypospadias.
|
27463801 |
2016 |
Hypospadias
|
0.200 |
Biomarker
|
disease |
BEFREE |
Variants in SF-1/NR5A1 more commonly cause a spectrum of reproductive phenotypes ranging from 46,XY DSD (partial testicular dysgenesis or reduced androgen production) and hypospadias to male factor infertility or primary ovarian insufficiency.
|
26303087 |
2015 |
Hypospadias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on male siblings with hypospadias and their asymptomatic father in whom we identified a heterozygous NR5A1 mutation of c.910G>A, p.E304K.
|
25502990 |
2015 |
Hypospadias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We identified two novel NR5A1 mutations showing impaired function in 23 Egyptian XY DSD patients with hypospadias (8.5%).
|
24591553 |
2014 |
Hypospadias
|
0.200 |
Biomarker
|
disease |
BEFREE |
The SF-1 gene may be another candidate gene for hypospadias.
|
23729601 |
2013 |
Hypospadias
|
0.200 |
Biomarker
|
disease |
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 |
Hypospadias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NR5A1 were first described in patients with primary adrenal insufficiency and 46,XY disorders of sexual development and later also in men with hypospadias, bilateral anorchia and micropenis and women with primary ovarian insufficiency.
|
23299922 |
2013 |
Hypospadias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the SF-1 gene may not play a significant role in the development of hypospadias in Caucasians.
|
23154282 |
2012 |
Hypospadias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NR5A1 were observed in 5/77 (6.5%) cases of 46,XY DSD including hypospadias.
|
22028768 |
2011 |
Hypospadias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of NR5A1 in 60 individuals with varying degrees of hypospadias from the German DSD network.
|
19439508 |
2009 |
Hypospadias
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|