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Advances in DNA sequencing have uncovered a rare syndrome which is caused by variations in the gene SATB1.
The study, co-authored by academics from Oxford Brookes University (UK), University of Lausanne (Switzerland), Radboud University (The Netherlands), University of Oxford (UK), University of Manchester (UK) and led by Max Planck Institute for Psycholinguistics (The Netherlands), discovered three classes of mutations within the gene SATB1, resulting in three variations of a neurodevelopmental disorder with varying symptoms ranging from epilepsy to muscle tone abnormalities.
Recognition of disorder will increase understanding and diagnosis
An international team of geneticists and clinicians from 12 countries identified 42 patients with mutations in the gene SATB1 who were all displaying a range of similar symptoms, albeit of varying severity.