|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis demonstrated a novel mutation in the DAX-1 gene leading to the diagnosis of AHC.
|
31164167 |
2019 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We longitudinally studied a boy with AHC due to DAX1 gene mutation who developed peripheral PP at age 4.5 years.
|
30537713 |
2019 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Background X-linked adrenal hypoplasia congenita (AHC), due to mutations in the nuclear receptor superfamily 0, group B, member 1 (NR0B1)/dosage-sensitive sex reversal, AHC, critical region on the X chromosome, gene 1 (DAX1) gene, usually presents with a salt-wasting adrenal crisis in infancy and hypogonadotropic hypogonadism (HH) in adolescents.
|
31219797 |
2019 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In humans the DAX1 mutations cause congenital adrenal hypoplasia (AHC) and hypogonadotropic hypogonadism (HHG) in boys.
|
31280422 |
2019 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Additionally, accurate reporting of mutations in NR0B1 and the associated phenotype are important to eventually establish a genotype-phenotype correlation that may help anticipate guidance in AHC.
|
30129976 |
2018 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
<i>NR0B1-</i>related adrenal hypoplasia congenita is inherited in an X-linked manner.
|
29361664 |
2018 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Conclusions Our report provides evidence that defined point mutations in the DAX-1 gene do not necessarily translate into the same clinical manifestations of AHC, even in patients with the same pedigree.
|
28284037 |
2017 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NR0B1 lead to adrenal hypoplasia congenita (AHC), hypogonadotropic hypogonadism (HH) and azoospermia in men.
|
28741070 |
2017 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita.
|
29087957 |
2017 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Moreover, the symptomatic treatment observation provided referential evidence in the treatment of X-linked AHC associated hypogonadism and bilateral inguinal cryptorchidism.
|
29176027 |
2017 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children.
|
25402384 |
2016 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
NR0B1 is the causative gene for X-linked adrenal hypoplasia congenita, characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and infertility.
|
27648561 |
2016 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation.
|
27376611 |
2016 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NR0B1, the gene encoding DAX1, result in X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG).
|
27035099 |
2016 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Four familial cases of X-linked adrenal hypoplasia congenita due to NROB1 gene mutation were identified.
|
27485500 |
2016 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita.
|
26303087 |
2015 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nine boys (from five families) with AHC were screened for NR0B1 mutations.
|
26030781 |
2015 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
|
25968435 |
2015 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 (DAX-1) mutation in this kindred.
|
26537215 |
2015 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
|
25079468 |
2015 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
We further detected upregulation of Wnt/β-catenin-VEGF signaling in the fetal Dax1-deficient testis, suggesting abnormal activation of signaling pathways in the absence of DAX1 as one mechanism of AHC-HH.
|
26464492 |
2015 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
X-linked adrenal hypoplasia congenita is a rare cause of primary adrenal insufficiency (PAI) in children due to mutations in NR0B1/DAX1 (nuclear receptor subfamily 0, group B, member 1/dosage-sensitive sex reversal-adrenal hypoplasia congenita at the critical region of the X chromosome, gene 1).
|
26448365 |
2015 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1.
|
25003377 |
2014 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We proposed the diagnosis of congenital adrenal hypoplasia in this patient and identified a hemizygous mutation (c.999_1000insCTCA, p.Leu335ThrfsX389) in exon 1 of the DAX1 gene.
|
24197767 |
2014 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This report describes the familial transmission of AHC over several generations and further expands the number of DAX1 mutations reported in the literature.
|
23512386 |
2014 |