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| Wang,Xiran; Pei,Yu; Dou,Jingtao; Lu,Juming; Li,Jian; Lv,Zhaohui. |
| Osteogenesis imperfecta (OI) is a family of genetic disorders associated with bone loss and fragility. Mutations associated with OI have been found in genes encoding the type I collagen chains. People with OI type I often produce insufficient α1-chain type I collagen because of frameshift, nonsense, or splice site mutations in COL1A1 or COL1A2. This report is of a Chinese daughter and mother who had both experienced two bone fractures. Because skeletal fragility is predominantly inherited, we focused on identifying mutations in COL1A1 and COL1A2 genes. A novel mutation in COL1A1, c.700delG, was detected by genomic DNA sequencing in the mother and daughter, but not in their relatives. The identification of this mutation led to the conclusion that they were... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Osteogenesis imperfecta; Chinese OI type 1 family; Type I collagen; Sequence analysis; Frameshift mutation. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100001 |
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| Pinheiro,Bruna; Zambrano,Marina B.; Vanz,Ana Paula; Brizola,Evelise; Souza,Liliane Todeschini de; Félix,Têmis Maria. |
| Abstract Treatment of moderate and severe forms of osteogenesis imperfecta (OI) with cyclic pamidronate at the Reference Center for OI Treatment in Southern Brazil was studied. A retrospective cohort study was conducted from 2002 to 2012. Data were obtained during inpatient (drug infusion) and outpatient care. Clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, history and site of the fractures, biochemical data, including calcium, phosphorus, and alkaline phosphatase levels, were systematically collected. Bone mineral density (BMD) was measured using dual energy X-ray absorptiometry (DXA). Forty-five patients (26 females) were included in the study, and the age of the patients at the time of diagnosis ranged from 1 to 144... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Osteogenesis imperfecta; Bone fracture; Clinical features; Pamidronate treatment; Compliance. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200252 |
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