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Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.
BMC Med Genet ; 20(1): 70, 2019 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-31053099


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.


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.





Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Proteínas de Membrana Transportadoras / Fatores de Transcrição / Doenças Genéticas Ligadas ao Cromossomo X Limite: Adolescente / Humanos / Masculino / Meia-Idade Idioma: Inglês Revista: BMC Med Genet Assunto da revista: Genética Médica Ano de publicação: 2019 Tipo de documento: Artigo