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Intractable Rare Dis Res. 2019 May;8(2):150-153. doi: 10.5582/irdr.2019.01046.

Splice receptor-site mutation c.697-2A>G of the COL1A1 gene in a Chinese family with osteogenesis imperfecta.

Zhai N1,2, Lu Y1,2, Wang Y3, Zhang S1,2, Peng C1,2, Zhang S1,2, Li T3, Chen M4, Liu J4, Fang F4, Ren X4, Han J1,2.

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School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Ji'nan, China.
Key Laboratory for Biotech-Drugs of National Health Commission, Key Laboratory for Rare & Uncommon Diseases of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan, China.
Shandong Provincial Hospital Affiliated to Shandong First Medical University, Ji'nan, China.
Department of Orthopaedic Surgery, The People's Hospital of Wuqing District, Tianjin, China.


Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and blue sclerae, which are mainly caused by a mutation of the COL1A1 or COL1A2 genes that encode type I procollagen. Mutations in the splice site of type I collagen genes are one of the mutations that cause OI and usually lead to a mild or moderate OI phenotype. A heterozygous A to G point mutation in intron 9 at the -2 position of the splice receptor site of COL1A1 was identified in a family with type I or IV OI. Three affected individuals in four generations of one family all presented with several clinical symptoms. They all had pectus carinatum, flat feet, gray-blue sclerae, and normal stature, teeth, hearing, and vision. Forearm fractures, small joint dislocations, and muscle weakness were all present in the patient's father and grandmother, who presented with a moderate type IV phenotype. The 10-year-old proband with type I OI had suffered a fracture twice, but had no history of joint dislocation or skin hyperextensibility. Charting the family helped to identify clinical symptoms in patients with mutations at the N-terminal of type I collagen genes.


COL1A1; N-terminal of type I collagen; Osteogenesis imperfecta; splice receptor-site mutation

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