Non-coding gene mutation linked to monogenic neurodevelopmental disorders

May 31 2024Mount Sinai Health System The work, published in the May 31 online issue of Nature Medicine , was done in collaboration with colleagues at the University of Bristol, UK; KU Leuven, Belgium; and the NIHR BioResource, currently based at the University of Cambridge, UK.

The discovery is significant, as it represents one of the most common single-gene genetic causes of such disorders, ranking second only to Rett syndrome among patients sequenced by the United Kingdom's Genomic Medicine Service. Notably, these mutations are typically spontaneous and not inherited, providing important insights into the nature of the condition.

The genetic changes we found affect a very short gene, only 141 units long, but this gene plays a crucial role in a basic biological function of cells, called gene splicing, which is present in all animals, plants and fungi. Most people with a neurodevelopmental disorder do not receive a molecular diagnosis following genetic testing.

"What I found remarkable is how such a common cause of a neurodevelopmental disorder has been missed in the field because we've been focusing on coding genes," says Heather Mefford, MD, PhD, of the Center for Pediatric Neurological Disease Research at St. Jude Children's Research Hospital who was not involved with the research. "This study's discovery of mutations in non-coding genes, especially RNU4-2, highlights a significant and previously overlooked cause.

Source: Education Headlines (educationheadlines.net)

Genetic Diagnostic DNA Gene Genes Genetic Disorder Genetics Genome Genomic Genomics Hospital Medicine Research Rett Syndrome Syndrome

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