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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-9-2009
Symbol SEDL
Location Xp22.2-p22.1
Name spondyloepiphyseal dysplasia, late
Other name(s)
  • SED Tarda, X-linked
  • spondyloepiphyseal dysplasia, Tarda
  • Corresponding gene TRAPPC2
    Other symbol(s) SEDT
    Main clinical features
  • trunk particularly short and degenerative disease of the hip; changes in the spine and hips become evident between 10 and 14 years of age; in adults, vertebral changes, especially in the lumbar region, are diagnostic
  • bone changes of the femoral head lead to secondary osteoarthritis during adulthood and some patients require total arthroplasty of the hip before the age of 40 years.
  • Genetic determination sex linked
    Prevalence ∼1.7 per million
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name Sedlin, truncating mutations
  • splice site alteration, several nucleotides deletions in intron 4, deletion in exon 6 resulting in loss of sedlin protein
  • mutations S73L, F83S and V130D cause SEDL
  • by sedlin misfolding, whereas the D47Y mutation may influence normal TRAPP (transport protein particle) dynamics (Choi 2009)