X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.

Annals of Laboratory Medicine
Hyejin RyuIn-Young Ok

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 i...Continue Reading

References

Jan 1, 1985·The Journal of Bone and Joint Surgery. British Volume·R Wynne-Davies, J Gormley
May 12, 2001·American Journal of Human Genetics·A K GedeonJ C Mulley
Sep 22, 2009·Clinica Chimica Acta; International Journal of Clinical Chemistry·Xin-Yi XiaTing-Ting Huang

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Citations

Dec 19, 2014·Pediatrics International : Official Journal of the Japan Pediatric Society·Hiroyuki AdachiTsutomu Takahashi
Jul 13, 2016·Yonsei Medical Journal·Sang Wan ChungYeong Wook Song

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Methods Mentioned

BETA
PCR
electrophoresis

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