Publications by authors named "P Calvas"
Anophthalmia, 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.
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- 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.
Article Synopsis
- Ocular malformations (OMs) are conditions caused by early defects in eye development, and despite identifying many related genes, the genetic cause is still unknown for about 50% of cases after Whole-Exome Sequencing.
- A patient was studied who had a syndromic OM linked to a newly discovered 3.15 Mb inversion in the 6p25 region, which likely affects a nearby gene responsible for ocular defects.
- The study demonstrates the significance of exploring structural variants in non-coding regions to understand and diagnose ocular malformations more effectively.
Objective: New genome sequencing techniques allow new approaches in medical genetics, in particular by facilitating the diagnosis of genetic diseases. However, their use also leads to unsolicited genetic findings being uncovered. This type of discovery raises ethical, legal and psychological considerations.
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