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Background  X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) is a skeletal disorder characterized by defective structures of vertebral bodies and/or of epiphyses of the long bones, resulting in moderately short stature and early joint degeneration.  TRAPPC2  gene, which is important for collagen secretion, has been reported as causative for SEDT-XL.    Case presentation  Here, we report two variants of  TRAPPC2  gene of SEDT-XL patients, a missense variant of start codon, c.1A > T, and a deletion variant, c.40delG. To understand molecular consequence of the variants, we establish an in vitro gene expression assay system and demonstrate that both mutated genes are transcribed, but are not properly translated, indicative of the pathogenic nature of those  TRAPPC2  variants.    Conclusions  In the current study, we provide additional experimental data showing that loss-of-function  TRAPPC2  variants are probably causative for SEDT-XL phenotype. These findings further contribute to the understanding the clinical picture related to  TRAPPC2  gene.

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases