Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy.
Bone(2018)
Abstract
•CREB3L1 stop-codon causes OI type III phenotype similar to classical collagen I OI.•Heterozygous CREB3L1 stop-codon carriers without clinical phenotype.•OASIS-associated OI clinical phenotype widened and bisphosphonate effect as expected.•Tissue-specific effects, such as affected collagen I-transcription in bone, not skin•Homozygous CREB3L1 stop-codon associates with low levels of bone glycosaminoglycans.
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Key words
Osteogenesis imperfecta,Recessive,Collagen type I,Glycosaminoglycan,OASIS,CREB3L1
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