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

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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
Issue Date
2019-05-03
Citation
BMC Medical Genetics. 20(1):70
Keywords
X-linked spondyloepiphyseal dysplasia tardaTRAPPC2Skeletal dysplasiaGene expression
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.
ISSN
1471-2350
Language
Korean
URI
http://hdl.handle.net/10371/153829
DOI
https://doi.org/10.1186/s12881-019-0802-2
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College of Medicine/School of Medicine (의과대학/대학원)Orthopedic Surgery (정형외과학전공)Journal Papers (저널논문_정형외과학전공)
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