[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):604-7

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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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[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda].

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