SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease BEFREE The role of SOX2 in dental development remains unknown, however, multiple supernumerary teeth can be considered as extraocular symptoms of SOX2 anophthalmia syndrome, rather than the coincidence of two rare diseases. 20803647 2010
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 GeneticVariation disease BEFREE Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome. 27862890 2017
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 GeneticVariation disease BEFREE The recurrent de novo frameshift mutation c.70del20 was identified in one patient with microphthalmia and syndromic anomalies consistent with SOX2 anophthalmia syndrome; the mutation frequency in our A/M population (4%) was lower than previously reported; it is likely that extensive utilization of clinical SOX2 testing has led to a bias toward SOX2-negative A/M cases in our research cohort. 20454695 2010
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease BEFREE Sex determining region Y (SRY)-box 2 (SOX2) anophthalmia syndrome is an autosomal dominant disorder manifesting as severe developmental eye malformations associated with brain, esophageal, genital, and kidney abnormalities. 22171155 2011
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 GeneticVariation disease BEFREE Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. 16543359 2006
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.500 GeneticVariation disease BEFREE Individuals with SOX2 mutations have major eye abnormalities including anophthalmia, microphthalmia, and coloboma. 18987493 2008
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.500 GeneticVariation disease BEFREE Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. 12612584 2003
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.500 Biomarker disease BEFREE This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia. 15503273 2004
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.500 GeneticVariation disease BEFREE Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. 16543359 2006
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.500 GeneticVariation disease BEFREE Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. 15812812 2005
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.500 GeneticVariation disease BEFREE We sequenced the SOX3 gene at Xq27 as a candidate gene for the X-linked anophthalmia based on the high homology of this gene to SOX2, a gene previously mutated in bilateral anophthlamia. 16114045 2005
CUI: C0003119
Disease: Anophthalmos
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