Web9. jan 2013 · In these cases, it is known as Sox2 Anophthalmia Syndrome. The Sox2 gene controls the production of Sox2 protein, which is responsible for binding certain other genes to specific regions of DNA to regulate their … Web8. sep 2015 · Clinical findings suggesting an association between alterations in SOX2 gene and developmental maladies have been evidenced. For instance, anophthalmia-esophageal-genital (AEG) syndrome characterized by an abnormal development of ectodermal and endodermal tissues, has been found to occur as a result of a heterozygous mutation in …
SOX2 anophthalmia syndrome Request PDF - ResearchGate
WebAbstract: Anophthalmia and serious microphthalmia are conditions characterized by the complete lack of the primary optic vesicle or the presence of the rudimentary eye-like structure. These are rare prenatal conditions, yet diagnoses remain a challenge in Black African areas, raising a major concerns surrounding care after birth. WebThe SOX2 gene encodes a transcription factor that plays a central role in differentiation of lens tissue from surface ectoderm . Cases of anophthalmia with identified SOX2 … st. bede the venerable church
SOX2 anophthalmia syndrome - PubMed
WebSOX2 anophthalmia syndrome. Lookup NU author(s): Emerita Professor Katherine Bushby. ... The SOX2-associated ocular malformations are variable in type, but most often bilateral … The most common genetic cause for anophthalmia is mutated SOX2 gene. Sox2 anophthalmia syndrome is caused by a mutation in the Sox2 gene that does not allow it to produce the Sox2 protein that regulates the activity of other genes by binding to certain regions of DNA. Without this Sox2 protein, the activity of genes that is important for the development of the eye is disrupted. Sox2 anophthalmia syndrome is an autosomal dominant inheritance, but the majority of patients … WebDescription. SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals … st. bede the venerable