Abstract:
BACKGROUND:Ossification of the posterior longitudinal ligament (OPLL) of the spine is a complex, multifactorial disease. Although several genes that are linked to cervical OPLL susceptibility have been reported, specific genetic studies regarding thoracic OPLL are lacking. Whole-genome sequencing has been considered as an efficient strategy to search for disease-causing genes. METHODS:We analysed whole-genome sequences in a cohort of 25 unrelated patients with thoracic OPLL. Bioinformatics analysis and various algorithms were used to predict deleterious variants. Sanger sequencing was used to confirm the variants. RESULTS:Four deleterious mutations in three genes (c.2716C>T (p.Arg906Cys) in collagen type VI α6 (COL6A6); c.1946G>C (p.Gly649Ala) in collagen type IX α1 (COL9A1); and c.301T>C (p.Ser101Pro) and c.171A>G (p.Ile57Met) in toll-like receptor 1 (TLR1)) were successfully identified. All the variants were confirmed by Sanger sequencing. CONCLUSION:The novel deleterious mutations of the three genes may contribute to the development of thoracic OPLL.
journal_name
J Orthop Surg Resjournal_title
Journal of orthopaedic surgery and researchauthors
Liang C,Wang P,Liu X,Yang C,Ma Y,Yong L,Zhu B,Liu X,Liu Zdoi
10.1186/s13018-018-1022-8subject
Has Abstractpub_date
2018-12-22 00:00:00pages
324issue
1issn
1749-799Xpii
10.1186/s13018-018-1022-8journal_volume
13pub_type
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更新日期:2012-02-15 00:00:00
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journal_title:Journal of orthopaedic surgery and research
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