A novel RNA-splicing mutation in TRAPPC2 gene causing X-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.

The article discusses a study on a ribonucleic acid (RNA)-splicing mutation in TRAPPC2 gene identified in a large Chinese family with X-linked spondyloepiphyseal dysplasia tarda (SEDT). The proband of the family is a 38-year-old man who has been experiencing chronic pain at joints that bear weight. Family members were subjected to blood analysis in which genomic deoxyribonucleic acid (DNA) was extracted and total RNA was isolated. It concludes that clear quantitative genotype-phenotype correlation for the mutation of TRAPPC2 gene is yet to be determined.