Homozygosity mapping by microarray and STRING protein-protein network analysis, and medical literature of related/ interacting genes such as NUP88, GLE1, THOC2 (these three along with the NUP214 gene are involved in mRNA export pathway), and NEK9, suggested that the NUP214 gene variant c.46-2A>G could be possibly causal for arthrogryposis in the present case. This evidence concerns the gene THOC2 and arthrogryposis.