Study identifies non-coding DNA variants linked to childhood developmental disorders

Approximately 400,000 babies are born annually with de novo mutations causing developmental disorders including intellectual disability, epilepsy, and heart defects, affecting children and families seeking diagnoses.

Each year, hundreds of thousands of children are born with spontaneous genetic mutations that disrupt development, and for many of their families, the search for a diagnosis stretches across years of uncertainty. A consortium of researchers has now found that answers may be concealed not in the genes themselves, but in the regulatory regions surrounding them — stretches of DNA long overlooked by clinical testing. By identifying seven previously unknown variants in these so-called untranslated regions, the team has offered diagnoses to ten families and raised a quiet but consequential question

Study identifies non-coding DNA variants linked to childhood developmental disorders

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