Publications by authors named "N Chassaing"
Ocular coloboma (OC) is a congenital disorder caused by the incomplete closure of the embryonic ocular fissure. OC can present as a simple anomaly or, in more complex forms, be associated with additional ocular abnormalities. It can occur in isolation or as part of a broader syndrome, exhibiting considerable genetic heterogeneity.
View Article and Find Full Text PDFAnophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye disorders, accounting for approximately 20% of childhood visual impairment. While non-coding regulatory sequences are increasingly recognised as contributing to disease burden, characterising their impact on gene function and phenotype remains challenging. Furthermore, little is known of the nature and extent of their contribution to AMC phenotypes.
View Article and Find Full Text PDFArticle Synopsis
- * A case was presented involving a 21-year-old woman with several health issues, including bilateral glaucoma and radiculomegaly, confirmed through cone-beam CT scans.
- * Genetic testing identified a specific mutation related to OFCD syndrome, and further scans revealed an atrial septal defect that was surgically repaired, highlighting the critical role of diagnosing radiculomegaly for effective clinical management and cardiac evaluations.
Article Synopsis
- Congenital microcoria (MCOR) is a rare genetic condition linked to issues like severe nearsightedness and glaucoma, caused by changes in a specific chromosome region.
- Researchers developed a 3D model of chromosome 13q32.1, showing how deletions disrupt important genetic boundaries, leading to altered gene expression that affects iris development.
- The study also identified a connection between SOX21 and the TGFB2 gene, highlighting their roles in eye development and conditions like glaucoma and myopia, which impact a large population.
Article Synopsis
- There is a very rare condition where people have early-onset ataxia (which means difficulty with movement) and miosis (which means their pupils are very small).
- So far, only one family has been identified with this condition, and they found a specific change in a gene called ITPR1 that seems to cause it.
- Researchers found another person with a similar change in the same gene, which helps to confirm that this gene is linked to the ataxia and miosis syndrome, making it easier for doctors to recognize and diagnose in the future.