Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy

Mutations of the endoplasmic reticulum (ER)-stress transducer OASIS (encoded by CREB3L1), cause severe recessive osteogenesis imperfecta (OI) not compatible with surviving the neonatal period, as has been shown in two unrelated families through a whole gene deletion vs. a qualitative alteration of OASIS. Heterozygous carriers in the described families have exhibited a mild phenotype. OASIS is a transcription factor highly expressed in osteoblasts, and OASIS −/− mice exhibit severe osteopenia and spontaneous fractures.

Source: Bone - June 21, 2018 Category: Orthopaedics Authors: Katarina Lindahl, Eva Åström, Anca Dragomir, Sofie Symoens, Paul Coucke, Sune Larsson, Eleftherios Paschalis, Paul Roschger, Sonja Gamsjaeger, Klaus Klaushofer, Nadja Fratzl-Zelman, Andreas Kindmark Tags: Full Length Article Source Type: research