Anophthalmos
|
0.500 |
Biomarker
|
disease |
BEFREE |
We show that Rbm24-targeted deletion using a constitutive CMV-driven Cre in mouse, and rbm24a-CRISPR/Cas9-targeted mutation or morpholino-knockdown in zebrafish, results in Sox2 down-regulation and causes the developmental defects anophthalmia or microphthalmia, similar to human SOX2-deficiency defects.
|
31814023 |
2020 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings emphasize the importance of testing for SOX2 variants in individuals with HH and genital anomalies even though anophthalmia or microphthalmia are not observed.
|
29371155 |
2018 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous loss-of-function variants in SOX2 are identified in approximately 40% of all cases of bilateral anophthalmia/micropthalmia (A/M).
|
30450772 |
2018 |
Anophthalmos
|
0.500 |
Biomarker
|
disease |
BEFREE |
SOX2 is a causative gene of syndromic HH characterized by anophthalmia, microphthalmia, or coloboma and other neurological defects such as epilepsy.
|
28659543 |
2017 |
Anophthalmos
|
0.500 |
Biomarker
|
disease |
BEFREE |
No additional SOX2 loss-of-function mutations were detected in this cohort, showing that SOX2 is clearly not a major cause of intellectual disability without anophthalmia/microphthalmia.
|
27862890 |
2017 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia.
|
26250054 |
2015 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a novel heterozygous mutation in the SOX2 gene in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth hormone deficiency.
|
24211324 |
2014 |
Anophthalmos
|
0.500 |
Biomarker
|
disease |
CTD_human |
The HMG-box transcription factor Sox2 plays a role throughout neurogenesis and also acts at other stages of development, as illustrated by the multiple organs affected in the anophthalmia syndrome caused by SOX2 mutations.
|
21532573 |
2011 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in SOX2 are the commonest single-gene cause of anophthalmia/microphthalmia (A/M) and sometimes result in pituitary abnormalities.
|
21326281 |
2011 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SOX2 do not appear to be a common cause of ocular defects other than anophthalmia/microphthalmia.
|
20454695 |
2010 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Seventy patients having non-syndromic forms of colobomatous microphthalmia (n=25), isolated microphthalmia (n=18), or anophthalmia (n=17), and syndromic forms of micro/anophthalmia (n=10) were included in this study after negative molecular screening for OTX2, RAX, SOX2, and CHX10 mutations.
|
21203406 |
2010 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Fifty-one patients suffering from nonsyndromic microphthalmia (n = 40) or anophthalmia (n = 11) were included in this study after negative molecular screening for SOX2, OTX2, RAX, and CHX10 mutations.
|
19397404 |
2009 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe a sporadic patient showing bilateral anophthalmia/microphthalmia and micropenis caused by a novel mutation (c.59_60insGG) in the SOX2 gene.
|
19254784 |
2009 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
|
19921648 |
2009 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
|
18385794 |
2008 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Individuals with SOX2 mutations have major eye abnormalities including anophthalmia, microphthalmia, and coloboma.
|
18987493 |
2008 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus it cannot be assumed that all SOX2 mutations in individuals with anophthalmia/microphthalmia are de novo.
|
18831064 |
2008 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Thus it cannot be assumed that all SOX2 mutations in individuals with anophthalmia/microphthalmia are de novo.
|
18831064 |
2008 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous, de novo mutations in the transcription factor SOX2 are associated with bilateral anophthalmia or severe microphthalmia and hypopituitarism.
|
18285410 |
2008 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duplications and polyalanine expansions within the transcription factor SOX3 have recently been described in association with infundibular hypoplasia, hypopituitarism and variable mental retardation, whilst mutations in SOX2 are associated with variable hypopituitarism in association with learning difficulties, oesophageal atresia and anophthalmia.
|
18174732 |
2007 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
|
16543359 |
2006 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a heterozygous SOX2 gene mutation underlying the syndrome of anophthalmia/microphthalmia-esophageal atresia and demonstrate that this entity can be associated to considerable clinical variability as shown by the discordant ocular phenotype observed in monozygotic twin brothers carrying an SOX2 deletion.
|
16892407 |
2006 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous de novo mutations in SOX2 have previously been associated with bilateral anophthalmia/microphthalmia, developmental delay, short stature, and male genital tract abnormalities.
|
16932809 |
2006 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data show that mutations in SOX2 can cause not only anophthalmia, but also aplasia of the optic nerve, chiasm and optic tract, as well as modest bilateral sensorineural hearing loss, and global developmental delay, underscoring the importance of SOX2 in early human eye and brain development.
|
16145681 |
2005 |
Anophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia.
|
15812812 |
2005 |