Objective: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare hereditary bone disease characterized by spinal and epiphyseal anomalies. We identified the disease by gene sequencing in a Chinese pedigree with SEDT.
Methods: We extracted genomic DNA from five members of a four-generation Chinese SEDT kindred with three affected males and then analyzed the genetic mutation by PCR and DNA sequencing.
Results: DNA sequencing showed that the genetic missense mutation occurred one bp upstream of exon 6 in the gene in two families, and a heterozygous mutation was found in a female carrier. In addition, no mutation was found in the other members of the family.
Conclusion: SEDT in this family was caused by a G/C missense mutation in exon 6 of the gene, previously not shown to be associated with X-linked SEDT.
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| http://dx.doi.org/10.1155/2018/8263136 | DOI Listing |
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