HERC2 gene's key role in rare neurodevelopmental syndrome deciphered

MedicalXpress | 六月 11, 2026

For years, it has been known that mutations in both copies of the HERC2 gene are associated with a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, features of the autism spectrum and movement disorders—characteristics very similar to those of Angelman syndrome, a better-known but equally rare condition. However, the exact function of the affected gene (HERC2) and the molecules with which it interacts remained unclear. Without understanding the biology underlying the syndrome, it was difficult to comprehend how it works and to devise therapeutic strategies to treat it.