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• W1994177515 abstract "Osteogenesis imperfecta (OI) is an inheritable connective tissue disorder with a broad clinical heterozygosis, which can be complicated by other connective tissue disorders like Ehlers-Danlos syndrome (EDS). OI/EDS are rarely documented. Most OI/EDS mutations are located in the N-anchor region of type I procollagen and predominated by glycine substitution. We identified a c.3521C>T (p.A1174V) heterozygous mutation in COL1A1 gene in a four-generation pedigree with proposed mild OI/EDS phenotype. The affected individuals had blue sclera and dentinogenesis imperfecta (DI) was uniformly absent. The OI phenotype varied from mild to moderate, with the absence of scoliosis and increased skin extensibility. Easy bruising, joint dislocations and high Beighton score were present in some affected individuals. EDS phenotype is either mild or unremarkable in some individuals. The mutation is poorly conserved and in silico prediction support the relatively mild phenotype. The molecular mechanisms of the mutation that leads to the possible OI/EDS phenotype should be further identified by biochemical analysis of N-propeptide processing and steady state collagen analysis." @default.
• W1994177515 created "2016-06-24" @default.
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• W1994177515 date "2015-01-01" @default.
• W1994177515 modified "2023-10-12" @default.
• W1994177515 title "Heterozygous mutation of c.3521C&gt;T in <i>COL1A1</i> may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family" @default.
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• W1994177515 doi "https://doi.org/10.5582/irdr.2014.01039" @default.
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