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  • Title: [A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree].
    Author: Lin Y, Rao SQ, Yang Y.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Apr; 25(2):150-3. PubMed ID: 18393234.
    Abstract:
    OBJECTIVE: To identify the genetic defect in a four-generation pedigree with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) from Southwest China. METHODS: Linkage analysis with one panel of fluorescently labeled microsatellite markers on chromosome X and mutation screening of SEDL gene by direct sequencing were performed. RESULTS: Linkage between SEDT and Xp22.2-Xp23.1 was established with maximum LOD score of 3.82 (theta = 0) between DXS987 and DXS8051. Upon sequence analysis, a point mutation within exon 4 of the SEDL gene (c.239A to G) was found which resulted in substitution of histidine with arginine at codon 80 (His80Arg). CONCLUSION: A novel missense mutation (H80R) was identified for SEDL gene in the large Chinese SEDT pedigree.
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