1 KMEB, Department of Clinical Research, Det Sundhedsvidenskabelige Fakultet, SDU2 Det Sundhedsvidenskabelige Fakultet, SDU3 unknown4 Department of Biochemistry and Molecular Biology, Faculty of Science, SDU5 Department of Biochemistry and Molecular Biology, Faculty of Science, SDU6 KMEB, Department of Clinical Research, Det Sundhedsvidenskabelige Fakultet, SDU
Spondyloepiphyseal Dysplasia Tarda (SEDT; MIM 313400) is a rare genetically heterogeneous disorder of vertebral and epiphyseal growth resulting in disproportionally short-trunked short stature, barrel-shaped chest, and dysplasia of the large joints. It is caused by the mutations of SEDL gene. The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA sequencing, a previously unreported deletion of T in exon 5 of SEDL gene (i.e. 293delT) was observed and seven individuals in the family carried the mutation. It results in frameshift and a putative truncated protein with the 97 N-terminal amino acids, and 9 changed amino acids. Therefore, loss of function of the gene could be predicted. However, this mutation has not been detected in 50 age and sex matched unrelated controls.