An international collaboration reports for the first time the description of five children, from four unrelated consanguineous families, with a pathological bi-allelic variant of the FILIP1 gene.
- The phenotype combines congenital myopathy with cognitive impairment and facial dysmorphia, and in two cases with cerebral malformations.
- The FILIP1 gene encodes protein 1, which interacts with filamin A (Filamin-A-interacting protein 1), a structural protein involved in the integrity and function of neurons and muscle cells, as well as with filamin A (which is responsible for neurological disorders) and filamin C (which is known to cause myofibrillary disorders).
