British scientists have discovered a rare genetic disorder that causes delays in children’s intellectual development and leads to the early onset of cataracts. According to research teams at the University of Portsmouth and the University of Southampton, this condition can affect 1 in 17 children, but it’s so new that it’s still unnamed. They found that the majority of patients with this condition also had microcephaly. This is a birth defect in which the baby’s head is smaller than expected when compared to babies of the same sex and age.
In a study published in the journal Genome Medicine, the team found that a change in a gene called coat protein complex 1 (COPB1) was the reason behind this new genetic disease.
Identifying mutants not only helps clinicians develop targeted interventions, but also opens the door to screening and prenatal testing.
In this study, the team sequenced the DNA of affected patients and their families and identified COPB1 as a potential root cause of the disease.
Using tadpoles to mimic human genetic variants, tadpoles with altered COPB1 genes had significantly smaller brains than control tadpoles, and as many tadpoles as patients had cataracts. This showed a very clear link between genes and disease.
“In the first experiment to test the association between genetic variation and disease, we were surprised to be able to reproduce the disease-related changes found in human patients four times in five by modifying the tadpole’s DNA. This will help our colleagues to provide the more timely and accurate diagnosis that patients and their families really need, “said Matt Guille, a professor at Portsmouth University. Stated.
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