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ba0004lb1 | (1) | ICCBH2015

Maternal vitamin D depletion disrupts neonatal skeletal development in mice

Buckley Harriet , Borg Stephanie , Nicholson Kirsty , Kinch Mark , Hughes David , Skerry Tim , Bishop Nick

Fractures in infancy raise the spectre of child abuse; it has been suggested that lack of vitamin D could result in bone abnormalities that could predispose to fractures. We utilised a mouse model system to investigate whether vitamin D deficiency in utero alters early bone growth and development.C57BL/6 female mice received vitamin D deficient or replete diet for 6 weeks, then mated and continued on their respective diets until weaning. Pups were culled...

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ba0004lb2 | (1) | ICCBH2015

Recessive osteogenesis imperfecta caused by missense mutations in SPARC

Mendoza Roberto , Fahiminiya Somayyeh , Majewski Jacek , Consortium Care4Rare Canada , Tetreault Martine , Nadaf Javad , Kannu Peter , Sochett Etienne , Howard Andrew , Stimec Jennifer , Dupuis Lucie , Roschger Paul , Klaushofer Klaus , Palomo Telma , Ouellet Jean , Al-Jallad Hadil , Mort John , Moffatt Pierre , Boudko Sergei , Bachinger Hans-Peter , Rauch Frank

Objectives: We sought to identify the disease-causing mutations in two unrelated girls with a clinical diagnosis of osteogenesis imperfecta type IV.Methods: Whole-exome sequencing and cellular studies in skin fibroblasts were conducted.Results: We identified two homozygous variants in SPARC (NM_003118.3; c.497G>A (p.Arg166His) in individual 1; c.787G>A (p.Glu263Lys) in individual 2). Secreted protein, acidic, cyste...

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Bone Abstracts

7th International Conference on Children's Bone Health

Late Breaking Oral Communication Abstracts

Maternal vitamin D depletion disrupts neonatal skeletal development in mice

Recessive osteogenesis imperfecta caused by missense mutations in SPARC

BiosciAbstracts