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

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

Bone（2018）

引用 22|浏览52

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摘要

•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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关键词

Osteogenesis imperfecta,Recessive,Collagen type I,Glycosaminoglycan,OASIS,CREB3L1

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