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- Title
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.
- Authors
Won, Joon Yeon; Kim, Dayeon; Park, Seon Young; Lee, Hye Ran; Lim, Jong-Seok; Park, Jong Hoon; Song, Mi Hyun; Song, Hae Ryong; Kim, Ok-Hwa; Kim, Yonghwan; Cho, Tae-Joon
- 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.
- Subjects
DYSPLASIA; GENE expression; PHENOTYPES; GENES; EPIPHYSIS
- Publication
BMC Medical Genetics, 2019, Vol 20, Issue 1, pN.PAG
- ISSN
1471-2350
- Publication type
Article
- DOI
10.1186/s12881-019-0802-2