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GENATLAS PHENOTYPE

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

Remark(s)

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)