Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.

Tibbe DhoogeDelfien SyxTrinh Hermanns-LêIngrid HausserGeert MortierJonathan ZonanaSofie SymoensPeter H ByersFransiska Malfait

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

The discovery of this novel pathogenic variant expands the limited spectrum of arginine to cysteine substitutions in type I procollagen. Furthermore, it confirms allelic heterogeneity in Caffey disease and impacts its molecular confirmation.

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