FILIP1 mutations cause congenital myopathy, dysmorphism and neurological defects
A new study published in Brain identified four bi-allelic variants in the gene coding for FILIP1 (a protein involved in neuronal and muscle function and integrity and interacts with FLNa and FLNc), within five individuals (from four unrelated consanguineous families) who express a broad spectrum of neurological symptoms including brain malformations, neurodevelopmental delay, muscle weakness and pathology and dysmorphic features. Various analyses revealed a recessive disorder characterized by neurological and muscular manifestations as well as dysmorphic features accompanied by perturbed proteostasis and myopathology.
- Brain . 2023 Oct 3;146(10):4200-4216