Article

Case Report

Ann Lab Med 2012; 32(3): 234-237

Published online May 1, 2012 https://doi.org/10.3343/alm.2012.32.3.234

Copyright © Korean Society for Laboratory Medicine.

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

Hyejin Ryu, M.D.1, Joonhong Park, M.D.1, Hyojin Chae, M.D.1, Myungshin Kim, M.D.1, Yonggoo Kim, M.D.1, and In-Young Ok, M.D.2

Departments of Laboratory Medicine1 and Orthopedic Surgery2, The Catholic University of Korea College of Medicine, Seoul, Korea

Correspondence to: Hyojin Chae
Department of Laboratory Medicine, Yeouido St. Mary’s Hospital, Yeouido-dong, Yeongdeungpo-gu, Seoul 150-713, Korea
Tel: +82-2-3779-1320
Fax: +82-2-3779-2285
E-mail: chez@catholic.ac.kr

Received: September 16, 2011; Revised: November 4, 2011; Accepted: February 8, 2012

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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 Xlinked SEDT case in Korea and highlights the importance of recognizing the mode of inheritance in the diagnosis of X-linked SEDT.

Keywords: Spondyloepiphyseal dysplasia, X-linked spondyloepiphyseal dysplasia tarda, TRAPPC2, SEDL