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

•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.