An international consortium of researchers has reported, for the first time ever, several paediatric cases of myopathy with a deficiency of VCP, a vasoline-containing protein previously implicated in an autosomal dominant form of inclusion myopathy associated or not with Paget’s disease, motor neurone damage and frontotemporal dementia:
- 13 unrelated children were identified using the GeneMatcher programme,
- the clinical picture combined a developmental disorder, intellectual disability, hypotonia and macrocephaly,
- transmission was autosomal dominant with 13 mutations in the VCP gene, 12 of which were de novo,
- unlike the adult forms, functional studies showed that most of the missense variants had reduced ATPase activity.
This work significantly broadens the phenotypic spectrum of VCP deficiency.
