British scientists have discovered a rare genetic disease that causes delays in intellectual development in children and leads to the early onset of cataracts.
The disease likely affects one in 17 children but is so new it doesn’t have a name yet, the Portsmouth and Southampton Universities research team explained.
They found that the majority of patients with the condition were also microcephalic, a birth defect in which a baby’s head is smaller than expected compared to babies of the same sex and age.
In the study published in the journal Genome Medicine, the team found that changes in a gene called coat protein complex 1 (COPB1) are the cause of this new genetic disease.
Identifying the variant helps clinicians design targeted interventions and open the door to screening and prenatal diagnosis.
For the study, the team sequenced the DNA of affected patients and their family members, identifying COPB1 as a potential underlying cause of the disease.
Using tadpoles to mimic the human gene variants, the tadpoles with the COPB1 gene changes had variably smaller brains than the control tadpoles, and many of them had cataracts, just like the patients. This showed the connection between gene and disease very clearly.
“In our first experiments to test the link between genetic variation and disease, we found, to our surprise, that by altering the DNA of tadpoles we were able to restore the disease-related changes in human patients four times out of five. to help our colleagues provide the more timely and accurate diagnosis that patients and their families so desperately need, “said co-author Matt Guille, professor at Portsmouth University.
(With contributions from agencies)