Ancient DNA solves 12,000-year-old mystery of rare genetic growth disorder
An Ice Age double burial in Italy yielded DNA showing a child had biallelic NPR2 mutations causing acromesomelic dysplasia, while her mother carried a single altered NPR2 copy; published in the New England Journal of Medicine, researchers note the child's survival implies prehistoric social care and confirms rare genetic diseases existed 12,000 years ago.
Why it mattersNPR2 mutations found in the 12,000-year-old NEJM report should prompt genetic-testing labs to reclassify variant pathogenicity.