Redcliffe Labs’ study published in the American Journal of Medical Genetics Part A, has documented a newly discovered genetic variant, c.720G>A, p.(Trp240*), in the NRROS gene. This discovery has achieved an improved understanding of SENEBAC syndrome paving the way for earlier, more accurate diagnosis and personalised care approaches.
The study focused on a 1-year-9-months female child whose symptoms began around nine months of age. To find the root cause of her condition, a team of doctors employed a focused genetic test called exome sequencing. This test examines specific areas of DNA responsible for making proteins. Through this process, the team identified a previously unknown mutation in the NRROS gene, marking only the 12th reported case of SENEBAC syndrome worldwide.
The SENEBAC syndrome is known to disrupt normal brain development and function, leading to serious symptoms such as frequent seizures, developmental delays, and the gradual loss of skills in young children. The syndrome is linked to mutations in the NRROS gene, which is crucial in protecting brain cells from damage caused by inflammation. In children affected by SENEBAC, a change in this gene weakens that protection, leaving the brain more susceptible to inflammatory harm that progressively impacts the child’s neurological health.
The report highlights that when the gene is altered due to a mutation, the microglia lose their ability to guard neurons effectively, resulting in the damage seen in SENEBAC syndrome. By highlighting this mechanism, the research findings emphasise the potential for targeted care approaches to protect children’s brains that are better affected by inflammation, helping them manage symptoms and improve their quality of life.
By recognising the exact genetic change responsible, doctors can more confidently diagnose SENEBAC syndrome when observing similar symptoms in other children. This can accurately help families avoid a lengthy and uncertain diagnostic process and enable more timely care. Furthermore, knowing the genetic mutation can guide discussions with families on whether the condition might affect other children or future generations, giving parents essential information about their family’s health.