Case Report

A new COL1A1 mutation in a Greek patient with osteogenesis imperfecta: Response to a low-dose protocol of zoledronic acid and two-year follow-up

Michail Sarantis¹, Panagoula Kollia², Stavroula Samara², Helen Athanasopoulou³, Yolanda Gyftodimou⁴, Dimitra Lianou⁵, Evdoxia Mpourazani⁵, Artemis Doulgeraki³

1. 4^th Department of Trauma and Orthopaedics, KAT Hospital, Athens, Greece
2. Department of Genetics & Biotechnology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece
3. Department of Bone and Mineral Metabolism, Institute of Child Health, Athens, Greece
4. Department of Clinical Genetics, Institute of Child Health, Athens, Greece
5. 1^st Department of Pediatrics, “Aghia Sophia” Children’s Hospital, Athens, Greece

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Keywords: Osteogenesis imperfecta, Collagen, Zoledronic acid, Mutation

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Abstract

Osteogenesis Imperfecta is a severe metabolic bone disorder, mainly caused by mutations of COL1A1 and COL1A2 genes that encode type I procollagen. We report a case of a 7-year-old boy with OI phenotype (recurrent, low-energy fractures, blue sclerae), whose DNA analysis revealed a new mutation of the COL1A1 gene. Herein, his two-year follow-up and his response to current treatment is described (low-dose protocol of zoledronic acid). Also, an insight is given on his metabolic bone profile, unfolding the biochemical response of bone turnover to this bisphosphonate.

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