A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker–Gordon Syndrome
Débora Romeo Bertola, Sofia de Oliveira Farias, Silvia Souza da Costa, Mara Maria Lisboa Santana Pinheiro, Maria Rita dos Santos Passos-Bueno, Carla Rosenberg, Ana Cristina Victorino Krepischi · 2025
Read A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker–Gordon Syndrome by Débora Romeo Bertola, Sofia de Oliveira Farias, Silvia Souza da Costa, Mara Maria Lisboa Santana Pinheiro, Maria Rita dos Santos Passos-Bueno, Carla Rosenberg, Ana Cristina Victorino Krepischi (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12721761.txt.
Description
Débora Bertola and co-authors report a child whose chromosome swap points to how a rare brain disorder arises, in a 2025 paper. The disorder, Baker-Gordon syndrome, affects brain development and was tied to faults in a gene called SYT1. Whether harm comes from a poison effect or from too little working gene copy was unclear.
The child's swap joined parts of two chromosomes, five and twelve. A mapping method that reads very long DNA strands found a hidden flip inside the moved piece. The break cut through the SYT1 gene, in a key region. That makes this the second case where a plain break in the gene fits the disorder. Too little working copy now looks like a real cause.
Catalog record
| CREATOR | Débora Romeo Bertola, Sofia de Oliveira Farias, Silvia Souza da Costa, Mara Maria Lisboa Santana Pinheiro, Maria Rita dos Santos Passos-Bueno, Carla Rosenberg, Ana Cristina Victorino Krepischi |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 14 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |