|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our objective was to identify DAX1 mutations in a series of families, to determine the types of mutations resulting in AHC and to locate single-amino-acid changes in a DAX1 structural model.
|
9529340 |
1998 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present a family with X-linked adrenal hypoplasia congenita (AHC) due to a truncation mutation in the DAX1 gene.
|
11592565 |
2002 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We present a male patient affected by X-linked adrenal hypoplasia congenita due to a novel DAX-1 missense mutation.
|
15800903 |
2005 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A careful analysis of the pedigree of this family lead to the recognition of an X-linked inheritance pattern, with subsequent confirmation in a female heterozygous carrier of a DAX1 missense mutation c.1274G>T, (p.Arg425Ile).The diagnosis of this condition remains challenging in a developing country, since the manifestations of AHC overlap with those of the much more frequently occurring infections; darkening of the skin is difficult to evaluate and there is a lack of access to routine endocrinological testing.
|
21739173 |
2012 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
X-linked adrenal hypoplasia congenita (AHC, OMIM 300200) due to mutations in the DAX-1 gene is frequently associated to hypogonadotrophic hypogonadism (HHG, OMIM 238320).
|
17803711 |
2008 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
DAX-1 plays a critical role during gonadal and adrenal differentiation since mutations of the human DAX-1 gene cause X-linked adrenal hypoplasia congenita associated with hypogonadotropic hypogonadism.
|
10446902 |
1999 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Consistent with the patient's mild clinical phenotype, the I439S mutation conferred intermediate levels of repressor activity of DAX-1 when compared with mutations associated with classic AHC.
|
10675358 |
2000 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The contiguous deletion that leads to GKD also commonly affects NR0B1 (DAX1), the gene associated with adrenal hypoplasia congenita, and DMD, the Duchenne muscular dystrophy gene.
|
16887896 |
2006 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene encoding DAX-1 result in X-linked adrenal hypoplasia congenita (AHC).
|
11443184 |
2001 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with DAX-1 gene mutations on chromosome Xp21 usually present with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
|
23585174 |
2013 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.
|
10323730 |
1999 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, molecular analysis of the DAX-1 gene from 6 patients with AHC, including 2 siblings, identified 5 novel mutations with 3 nonsense mutations and 2 frameshift mutations.
|
8855822 |
1996 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in DAX1 (NR0B1) causing X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.
|
19672728 |
2009 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All DAX-1 mutations found in AHC patients alter the protein C terminus, which shares similarity to the ligand binding domain of nuclear hormone receptors and bears transcriptional repressor activity.
|
12034880 |
2002 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita.
|
17054473 |
2006 |
|
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 |
Mutations in the KAL gene (Kallmann syndrome) and the AHC gene (adrenal hypoplasia congenita/HH) cause X-linked recessive HH.
|
10727999 |
1999 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we examined AKR1B1 gene expression in human fetal adrenals, adrenocortical cell line, and tumors and compared the results with the expression of steroidogenic genes (StAR and CYP11A) and regulators of adrenal cortex development [steroidogenic factor-1 (SF-1) and dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1)].
|
15181092 |
2004 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene.
|
16061826 |
2005 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations of DAX-1 give rise to the X-linked form of adrenal hypoplasia congenita (AHC).
|
16514244 |
2006 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation.
|
21227944 |
2011 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.
|
15841486 |
2005 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
|
12519885 |
2003 |