Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges
نویسندگان
چکیده
Orthopaedic Department, Royal Hospital for Children, Glasgow,UK; Department of bone and mineral metabolism, Institute of Child Health, “Agia Sofia” Chidren’s Hospital, 11527, Athens, Greece; Department of Genetics, Institute of Child Health, “Agia Sofia” Chidren’s Hospital, 11527, Athens, Greece; Aristotle University Medical School Thessaloniki, Papageorgiou General Hospital, Greece; 2 Department of Paediatric Orthopaedics, “Agia Sofia” Chidren’s Hospital, 11527, Athens, Greece
منابع مشابه
Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta
Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...
متن کاملAsymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2
Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation in COL1A2 leads to recurrent cases of fetal osteogenesis imperfecta Sillence type IIA, which emphasizes the importance of clinical and genetic evaluation of mosaicism in asymptomatic parents as verified mosaicism highly increases recurrence risk.
متن کاملNext-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta
BAckground Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...
متن کاملMutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta.
Osteogenesis imperfecta is normally caused by an autosomal dominant mutation in the type I collagen genes COL1A1 and COL1A2. The severity of osteogenesis imperfecta varies, ranging from perinatal lethality to a very mild phenotype. Although there have been many reports of COL1A1 and COL1A2 mutations, few cases have been reported in Chinese people. We report on five unrelated families and three ...
متن کاملOsteogenesis Imperfecta Due to Compound Heterozygosity for the LEPRE1 Gene
Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born t...
متن کامل