Overview
- The Idibell-led collaboration reports 13 affected individuals from eight unrelated families across multiple countries, with results published in the American Journal of Human Genetics.
- The condition shows a wide clinical spectrum, from prenatal lethal presentations to mild cognitive or behavioral issues, and can resemble Coffin–Lowry–type features or be mistaken for autism.
- One patient treated at Hospital Universitari de Bellvitge received a genetic diagnosis after more than a decade without answers.
- Case aggregation used Idibell-developed clinical genomics algorithms, whole-genome sequencing, and the GeneMatcher platform, with pathogenicity supported by patient-derived fibroblasts and a fruit-fly model.
- Investigators note there is no established therapy yet and expect additional diagnoses as laboratories incorporate RPS6KC1 into testing panels.