Article
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Human mutation - 1 Apr 2007
Cabral Wayne A, Makareeva Elena, Letocha Anne D, Scribanu Nina, Fertala Andrzej, Steplewski Andrzej, Keene Douglas R, Persikov Anton V, Leikin Sergey, Marini Joan C
Abstract excerpt
The most common mutations in type I collagen causing types II-IV osteogenesis imperfecta (OI) result in substitution for glycine in a Gly-Xaa-Yaa triplet by another amino acid. We delineated a Y-position substitution in a small pedigree with a combined OI/Ehlers-Danlos Syndrome (EDS) phenotype, characterized by moderately decreased DEXA z-score (-1.3 to -2.6), long bone fractures, and large-joint...
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