Ann Lab Med.  2012 May;32(3):234-237. 10.3343/alm.2012.32.3.234.

X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree

Affiliations
  • 1Department of Laboratory Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea. chez@catholic.ac.kr
  • 2Department of Orthopedic Surgery, The Catholic University of Korea College of Medicine, Seoul, Korea.

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.

Keyword

Spondyloepiphyseal dysplasia; X-linked spondyloepiphyseal dysplasia tarda; TRAPPC2; SEDL

MeSH Terms

Adolescent
Asian Continental Ancestry Group/*genetics
DNA Mutational Analysis
Exons
Genetic Diseases, X-Linked/*genetics
Humans
Male
Membrane Transport Proteins/*genetics
Osteochondrodysplasias/*genetics/radiography
Pedigree
Republic of Korea
Transcription Factors/*genetics
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