A new gene for a severe neurodevelopmental disorder is unmasked
An international consortium of researchers has identified a novel cause for a severe neurodevelopmental disorder. The study, published in *The American Journal of Human Genetics*, reports that bi-allelic loss-of-function variants in the NRDC gene are responsible for a syndrome characterized by neonatal lethality, microcephaly, and significant brain abnormalities. Using a combination of human genetics and a Drosophila model, the investigators from ten countries validated NRDC’s critical role in neurodevelopment. They identified 14 affected individuals with mutations in this gene, consolidating a previously unrecognized genetic etiology for this devastating condition.
Why it might matter to you: This discovery directly expands the diagnostic landscape for severe, early-onset neurogenetic syndromes, a core area of clinical genetics and genomics. For professionals involved in exome or whole-genome sequencing for undiagnosed diseases, NRDC now represents a high-priority candidate gene. The use of a cross-species functional model also underscores the continued importance of integrating basic research with human genetic data to confirm gene-disease relationships and understand pathogenic mechanisms.
Source →Stay curious. Stay informed — with Science Briefing.
Always double check the original article for accuracy.