Sequencing the genomes of 100 individuals with mental retardation with no known cause yielded genetic answers for 16 of them, a study found, suggesting the technique may help diagnose and aid in treatment.
While more than 400 genetic mutations are known to cause intellectual disability, they are responsible for less than half of the cases, said Han Brunner, a study author and head of human genetics at Radboud University Nijmegen Medical Centre in the Netherlands. The research is published today in the New England Journal of Medicine.
The study shows how gene sequencing can improve diagnosis in patients with mental disabilities, many of whom never learn the cause. Knowing the genetic origin can help patients and families understand the prognoses and may lead to specific treatment options, the authors said in the study.
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