ArticleAnnals of laboratory medicine2012
X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.
Article in Annals of laboratory medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.BMC pediatrics · 2026Article
- Clinical Images: Back pain, flattened vertebral bodies, and a novel mutation in the TRAPPC2 gene.ACR open rheumatology · 2025Article
- X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India.Journal of orthopaedic case reports · 2020Article
- Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.BMC medical genetics · 2019Article
- Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL).International journal of endocrinology · 2018Article
- Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family.Yonsei medical journal · 2016Article
- Biomedical and social aspects of spondyloepiphyseal dysplasia tarda cases from bengkulu district of indonesia.International journal of biomedical science : IJBS · 2012Article
- Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder.Journal of Ayurveda and integrative medicineArticle
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development of degenerative osteoarthritis. SED is subdivided into congenita and tarda forms according to the age at onset and clinical severity, and further subdivided into genetically different forms according to the mode of inheritance and the gene involved. We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk. A pedigree analysis of 3 generations with 6 affected persons revealed an X-linked recessive mode of inheritance. Mutation analysis of the TRAPPC2 (previously called SEDL) gene, the only gene associated with X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT; MIM 313400), was performed, and a splice-donor site mutation in intron 3 of the TRAPPC2 gene (c.93+5G>A) was identified in the proband and in his unaffected mother (a heterozygote). This mutation is one of the 2 most frequent mutations reported in the medical literature, and is known to result in exon 3 skipping. This is the first report of a genetically confirmed X-linked SEDT case in Korea and highlights the importance of recognizing the mode of inheritance in the diagnosis of X-linked SEDT.
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