Heterozygous mutation of c.3521C&gt;T in <i>COL1A1</i> may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family

Shi Xianlong, Lu Yanqin, Wang Yanzhou, Zhang Yu-ang, Teng Yuanwei, Han Wanshui, Han Zhenzhong, Li Tianyou, Chen Mei, Liu Junlong, Fang Fengling, Dou Conghui, Ren Xiuzhi, Han Jinxiang

doi:10.5582/irdr.2014.01039

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Heterozygous mutation of c.3521C>T in <i>COL1A1</i> may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family

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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.

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Intractable & Rare Diseases Research

Intractable & Rare Diseases Research 4 (1), 49-53, 2015

特定非営利活動法人バイオ＆ソーシャル・サイエンス推進国際研究交流会

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CRID: 1390282680523319168

NII論文ID: 130005008101

DOI: 10.5582/irdr.2014.01039

ISSN: 2186361X; 21863644

Web Site: https://search.jamas.or.jp/link/ui/2016174941

本文言語コード: en

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Heterozygous mutation of c.3521C>T in <i>COL1A1</i> may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family

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Heterozygous mutation of c.3521C&gt;T in <i>COL1A1</i> may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family

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Heterozygous mutation of c.3521C>T in <i>COL1A1</i> may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family

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