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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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ey0016.5-5 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.5. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

M Pekkinen , PA Terhal , LD Botto , P Henning , RE Makitie , P Roschger , A Jain , M Kol , MA Kjellberg , EP Paschalis , K van Gassen , M Murray , P Bayrak-Toydemir , MK Magnusson , J Jans , M Kausar , JC Carey , P Somerharju , UH Lerner , VM Olkkonen , K Klaushofer , JC Holthuis , O Makitie

Abstract: JCI Insight. 2019; Apr 4;4(7).In brief: This study describes a novel autosomal dominant form of primary osteoporosis caused by SGMS2 mutations in six families. A recurrent mutation p.Arg50* led to primary osteoporosis in four families, whereas missense mutations p.Ile62Ser and p.Met64Arg caused a much more severe bone phenotype with spondylometaphyseal d...

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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

5.5. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

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