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

Autor: Jong-Seok Lim, Joon Yeon Won, Tae Joon Cho, Yonghwan Kim, Seon Young Park, Ok Hwa Kim, Hye Ran Lee, Jong Hoon Park, Mi Hyun Song, Da-Yeon Kim, Hae Ryong Song
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-5 (2019)
BMC Medical Genetics
ISSN: 1471-2350
Popis: 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.
Databáze: OpenAIRE
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