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ey0015.5-4 | New genes and gene mutations | ESPEYB15

5.4 Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

T Cundy , M Dray , J Delahunt , JD Hald , B Langdahl , C Li , M Szybowska , S Mohammed , EL Duncan , AM McInerney-Leo , PG Wheeler , P Roschger , K Klaushofer , J Rai , M Weis , D Eyre , U Schwarze , PH Byers

To read the full abstract: J Bone Miner Res 2018;33(7):1260-1271Osteogenesis imperfecta (OI) is characterized by early-onset skeletal fragility, often short stature, blue sclerae and some other features. OI is caused by mutations in the two genes encoding type I collagen, namely COL1A1 and COL1A2. Some previous reports have indicated that when the mutation involves the C-propeptide cleavage site in e...

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ESPE Yearbook of Paediatric Endocrinology

5.4 Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

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