Objective: To detect the mutation of the SEDL gene in an X-linked spondyloepiphyseal dysplasia tarda (SEDL) family.
Methods: Two patients and three females of the X-SEDL family were detected using reverse transcriptase PCR (RT-PCR) and sequence analysis.
Results: A G209A mutation of SEDL gene was detected in the cDNA sequences of the patients, which was confirmed by sequence analysis of the exon 4 of the SEDL gene. The daughter of the proband was a carrier of the mutation.
Conclusion: Since the SEDL gene is relatively small, sequence analysis of cDNA of the SEDL gene was possible after extraction of total RNA followed by RT-PCR. Mutations in the open reading frame can be detected y by cDNA sequencing. It was relatively more rapid and direct than amplifying and detecting the exons one by one.
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A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
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Genet Mol Res
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Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive osteochondrodysplasia characterized by disproportionately short stature and degenerative joint disease. The objective of this study was to describe a novel nonsense mutation in the sedlin gene (SEDL) causing severe SEDT in a large Chinese pedigree. The clinical features of all affected individuals and female carriers were presented.
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