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  • Title: [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda].
    Author: Li J, Chai X, Lu L, Zhu J, Du X, Zhao L.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):604-7. PubMed ID: 25297591.
    Abstract:
    OBJECTIVE: To explore the molecular mechanism for a family with hereditary X-linked spondyloepiphysealdysplasia tarda (SEDT). METHODS: For 3 affected males and 2 obligate carrier females from the family, exons 3 to 6 of SEDL gene were amplified with PCR and sequenced. RESULTS: In the three patients, a deletional mutation (c.267_271delAAGAC) in exon 5 has been identified, which has caused frameshift of the protein product. CONCLUSION: c.267_271delAAGAC frameshift mutation of the exon 5 of the SEDL gene probably underlies the disease in this family.
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