We know there are quite a lot of idiopathic cases in the medical and veterinary profession. Scientists are on a search to look after genes, which could provide valuable insight into certain cases. Recently, experts from the Baylor College of Medicine and also other institutions found a gene BICRA that causes neurodevelopmental defects. The study published in the American Journal of Human Genetics along with evidential proof.
The researchers explored a controversial case, which is distinct from the Coffin-Siris syndrome. The patient suffers from several neurological defects, and the genetic assay reveals a mutation in the BICRA gene. For instance, they found 11 more patients with similar mutations in the gene by using the software GeneMatcher.
Moreover, the mutation observed in 12 patients were all acquired, and this means there is no inheritance of the mutagenic genes. The gene loses its function after undergoing mutation (dominant), thereby ending up in neural disorder.
To come to an appropriate conclusion, the scientist tested the function of the BICRA gene in zebrafish and fruit flies. They induced a mutation in the zebrafish, and possibly mimics the sequence as inpatients. As a result, the zebrafish developed craniofacial defect as same as one of the patients experienced. Similarly, in fruit flies, they identified that the gene was expressed in the nuclei of the neuron and glial cells. By discovering those genes earlier, we could establish the possible outcome by certain gene therapies or targeted medicines.
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Source: Medical Xpress
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