Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SOX2 do not appear to be a common cause of ocular defects other than anophthalmia/microphthalmia.
|
20454695 |
2010 |
Microphthalmos
|
0.200 |
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 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic deletions of 3q26 (SOX2) were identified in four independent patients with syndromic microphthalmia.
|
23701296 |
2013 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous, de novo mutations in the transcription factor SOX2 are associated with bilateral anophthalmia or severe microphthalmia and hypopituitarism.
|
18285410 |
2008 |
Microphthalmos
|
0.200 |
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 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
|
19921648 |
2009 |
Microphthalmos
|
0.200 |
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 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In severe bilateral cases (anophthalmia or severe microphthalmia) the genetic cause is now identifiable in approximately 80 percent of cases, with de novo heterozygous loss-of-function mutations in SOX2 or OTX2 being the most common.
|
24859618 |
2014 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
|
21326281 |
2011 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous de novo mutations in SOX2 have been reported in approximately 10-20% of patients with unilateral or bilateral anophthalmia or microphthalmia.
|
24211324 |
2014 |
Microphthalmos
|
0.200 |
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 |
Microphthalmos
|
0.200 |
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 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in SOX2, a SOX1B-HMG box transcription factor, have been found in up to 10% of individuals with severe microphthalmia or anophthalmia and such mutations could also be associated with a range of non-ocular abnormalities.
|
17522144 |
2007 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The SOX2-p.Pro181Gln and SOX2-p.Pro181Glu mutations were identified in patients with isolated bilateral microphthalmia and microphthalmia with microcornea, respectively.
|
29461140 |
2018 |
Microphthalmos
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Thus it cannot be assumed that all SOX2 mutations in individuals with anophthalmia/microphthalmia are de novo.
|
18831064 |
2008 |
Microphthalmos
|
0.200 |
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 |
Microphthalmos
|
0.200 |
Biomarker
|
disease |
BEFREE |
While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia.
|
23613260 |
2013 |
Microphthalmos
|
0.200 |
Biomarker
|
disease |
BEFREE |
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
|
25542770 |
2015 |
Microphthalmos
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Microphthalmos
|
0.200 |
Biomarker
|
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 |
Microphthalmos
|
0.200 |
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 |