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

Joon Yeon Won, Dayeon Kim, Seon Young Park, Hye Ran Lee, Jong Seok Lim, Jong Hoon Park, Mi Hyun Song, Hae Ryong Song, Ok Hwa Kim, Yonghwan Kim, Tae Joon Cho

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Abstract

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.

Original languageEnglish
Article number70
JournalBMC Medical Genetics
Volume20
Issue number1
DOIs
Publication statusPublished - 2019 May 3

Keywords

  • Gene expression
  • Skeletal dysplasia
  • TRAPPC2
  • X-linked spondyloepiphyseal dysplasia tarda

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Won, J. Y., Kim, D., Park, S. Y., Lee, H. R., Lim, J. S., Park, J. H., Song, M. H., Song, H. R., Kim, O. H., Kim, Y., & Cho, T. J. (2019). Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: Report of two cases. BMC Medical Genetics, 20(1), [70]. https://doi.org/10.1186/s12881-019-0802-2