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In a recent study published in *Nature*, researchers highlighted the potential of whole-genome sequencing in diagnosing severe intellectual disability, even when traditional tests fail to detect any abnormalities. Intellectual disability affects about 0.5% of newborns, and its causes are often unknown due to the complex and varied genetic backgrounds involved. This study identified specific DNA anomalies that may be responsible for the condition, offering new insights into its genetic basis.
Gene chip analysis and exon sequencing typically focus on selected genes or small DNA segments, aiming to detect inherited or de novo mutations. However, these methods often miss the broader range of genetic variations that could be responsible for the disorder. As a result, many cases remain undiagnosed despite extensive testing.
To address this gap, Joris Veltman and his team at the University of Maastricht in the Netherlands conducted genome-wide sequencing on 50 patients with severe intellectual disability and their unaffected parents. Previous screening techniques had not uncovered any relevant genetic markers, but the new approach revealed 84 novel single nucleotide variations (SNVs) and 8 structural copy number variations (CNVs) linked to the condition.
The results showed that whole-genome sequencing successfully identified the cause of the disorder in 42% of the patients, demonstrating its effectiveness in uncovering hidden genetic factors. The researchers emphasized that de novo SNVs and CNVs affecting coding regions play a significant role in causing severe intellectual disabilities. They also stressed the importance of using whole-genome sequencing as a powerful diagnostic tool, especially for cases where conventional methods fall short. This study marks an important step forward in understanding and diagnosing complex genetic disorders.