viernes, 11 de octubre de 2019

‘Jumping’ genes can cause rare developmental disorders in children

Morning Rounds
Shraddha Chakradhar

‘Jumping’ genes can cause rare developmental disorders in children

Small pieces of DNA can sometimes ‘jump’ around in the genome and cause unintended effects. A large new study finds that these pieces — known as transposons — could, in rare cases, also cause some childhood developmental disorders. Looking at data from nearly 10,000 patients in the U.K., researchers found nine new transposons, four of which were likely responsible for disorders. Specifically, the scientists were able to trace these transposons to four patients, including three patients who had previously been undiagnosed. The diagnoses included disorders characterized by developmental delay, learning disabilities, and irregular physical characteristics. And although the overall frequency of conditions caused by transposons is low, the authors nonetheless emphasize the need to better study these genetic bits when trying to understand the basis for patients’ disease.

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