viernes, 3 de mayo de 2019

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases | BMC Medical Genetics | Full Text

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases | BMC Medical Genetics | Full Text



BMC Medical Genetics

Novel loss-of-function variants of TRAPPC2manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases

  • ,
  • ,
  • ,
  • ,
  • ,
  • ,
  • ,
  • ,
  • ,
  • Email author and
  • Email authorView ORCID ID profile
Contributed equally
BMC Medical Genetics201920:70
  • Received: 31 October 2018
  • Accepted: 8 April 2019
  • Published: 
Open Peer Review reports



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.

Keywords

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

No hay comentarios:

Publicar un comentario