A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree

作者：Xia, Xin-Yi; Cui, Ying-Xia^*; Zhou, Yu-Chun; Zhou, Xin; Shi, Yi-Chao; Wei, Li; Li, Xiao-Jun; Huang, Yu-Feng; Huang, Ting-Ting

来源：Clinica Chimica Acta, 2009, 410(1-2): 39-42.

DOI：10.1016/j.cca.2009.09.016

• Spondyloepiphyseal dysplasia tarda
• SEDL
• Insertion mutation

Background: Spondyloepiphyseal dysplasia tarda (SEDT) is an X-chromosome linked primary skeletal dysplasia characterized by a disproportionate short-trunked short stature, dysplasia of the large joints and flattened thoracic and lumber vertebral bodies. The objective of this study is to describe a large Chinese SEDT family with a milder phenotype and describe the molecular and clinical findings. @@@ Methods: Eight affected males of the family were diagnosed with SEDT according to their clinical and radiological features. Direct DNA sequencing of the SEDL gene was performed. RT-PCR experiments on total RNA from blood lymphocytes were performed to confirm the defect on the SEDL gene. A short summary of all currently known SEDL gene mutations is presented. @@@ Results: DNA sequencing revealed that all the affected males carried an insertion mutation (c.370-371 insA) unreported previously, predicted to result in frameshifts and generate a premature stop codon (p. S124fsX127). The identical mutation was also observed in a 10-year old presymptomatic boy of the family. Eight female carriers had the typical sequencing chromatograms of heterozygotes. @@@ Conclusions: Identification of the novel insertion mutation (c.370-371insA) in this SEDT family enables carrier detection and presymptomatic/prenatal diagnosis, but also the detailed molecular and clinical features will be useful for extending the evidence for genetic and phenotypic heterogeneity in SEDT.

• 出版日期2009-12-8
• 单位南京大学