Article
A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder.
Nature communications - 4 Feb 2022
Lui Julian C, Raimann Adalbert, Hojo Hironori, Dong Lijin, Roschger Paul, Kikani Bijal, Wintergerst Uwe, Fratzl-Zelman Nadja, Jee Youn Hee, Haeusler Gabriele, Baron Jeffrey
Abstract excerpt
SP7/Osterix is a transcription factor critical for osteoblast maturation and bone formation. Homozygous loss-of-function mutations in SP7 cause osteogenesis imperfecta type XII, but neomorphic (gain-of-new-function) mutations of SP7 have not been reported in humans. Here we describe a de novo dominant neomorphic missense variant (c.926 C > G:p.S309W) in SP7 in a patient with craniosynostosis, cranial...
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