In humans, variants in UFSP2’s catalytic domain have been reported in autosomal dominant disorders of the skeletal system, including spondyloepimetaphyseal dysplasia, Di Rocco type (OMIM 617974) and Beukes hip dysplasia in a large Afrikaner family from South Africa (OMIM 142669).11–13 These conditions are not reported to cause neurological dysfunction or epilepsy. Here, UFSP2 is linked to spondyloepimetaphyseal dysplasia, matrilin-3 type.