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http://dx.doi.org/10.1002/ajmg.a.30282DOI Listing

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Article Synopsis
  • SOX2 disorders can lead to serious congenital conditions like anophthalmia-esophageal-genital syndrome and microphthalmia, with this study focusing on a specific case involving a chromosomal deletion in a 15-week fetus.* -
  • The autopsy revealed multiple abnormalities including bilateral microphthalmia, facial deformities, brain swelling, and lung issues, indicating a complex interplay of malformations stemming from the genetic deletion.* -
  • The findings suggest that the deletion affects the SOX2 gene, crucial for the development of the nervous system and organs, resulting in a range of abnormalities not previously documented in other cases.*
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Article Synopsis
  • - Loss-of-function mutations in the SOX2 gene are primarily linked to eye disorders like anophthalmia and microphthalmia, but can also lead to non-ocular issues such as growth problems and developmental delays.
  • - A study involving patients with intellectual disabilities, but no eye abnormalities, found no significant SOX2 mutations in 192 tested individuals, indicating SOX2 mutations are not a major cause of intellectual disability without associated eye conditions.
  • - The investigation highlights how "genotype first" approaches, which analyze genetic information without prior assumptions, can reveal the broader impacts of certain genes like SOX2, showing they can be involved in conditions beyond their traditionally recognized traits.
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Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3.

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