A cryptic balanced translocation involving COL1A2 gene disruption cause a rare type of osteogenesis imperfecta.
A cryptic balanced translocation involving COL1A2 gene disruption cause a rare type of osteogenesis imperfecta.
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DOI：
10.1016/j.cca.2016.06.011
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发表时间：
2016-09
期刊：
影响因子：
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通讯作者：
Xiao-jie Xu;F. Lv;Yi Liu;Jian-yi Wang;Yu-wen Song;Asan;Jia-wei Wang;Li-jie Song;Yan Jiang;O. Wang;W. Xia;X. Xing;Mei Li
中科院分区：
文献类型：
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作者：
Xiao-jie Xu;F. Lv;Yi Liu;Jian-yi Wang;Yu-wen Song;Asan;Jia-wei Wang;Li-jie Song;Yan Jiang;O. Wang;W. Xia;X. Xing;Mei Li
BackgroundOsteogenesis imperfecta (OI) is a group of hereditary disorders characterized by low bone mass and recurrent fractures. Most OI cases follow an autosomal dominant pattern of inheritance and are attributed to mutations in genes encoding type I collagen (COL1A1/COL1A2). Genomic structural variations involving type I collagen genes are extremely rare in OI.Case reportIn this study, we characterized ade novobalanced translocation of t(5;7)(q32;q21.3) that caused an extremely rare type of OI in a patient from a non-consanguineous family. The clinical phenotypes of this OI included recurrent fractures, low bone mass, macrocephaly, blue sclera and failure to thrive. Next-generation sequencing was used to identify the translocation, and Sanger sequencing was used to validate and map the breakpoints. The breakpoint on chromosome 7 disrupted theCOL1A2gene in the 17th exon, presumed to affect type I collagen production and give rise to OI. The breakpoint on chromosome 5 disrupted the protein phosphatase 2 regulatory subunit B, beta gene (PPP2R2B) within the first intron.ConclusionsThis is the first report of a copy-neutral structural variant involvingCOL1A2that leads to a rare type of OI. This study expands the genotypic spectrum of OI and demonstrates the effectiveness of targeted sequencing for breakpoint mapping.
