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Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes.

ABSTRACT: Ossification of the posterior longitudinal ligament of the spine (OPLL), which is characterized by ectopic bone formation in the spinal ligaments, can cause spinal-cord compression. To date, at least 11 susceptibility genes have been genetically linked to OPLL. In order to identify potential deleterious alleles in these OPLL-associated genes, we designed a capture array encompassing all coding regions of the target genes for next-generation sequencing (NGS) in a cohort of 55 unrelated patients with OPLL. By bioinformatics analyses, we successfully identified three novel and five extremely rare variants (MAF?

SUBMITTER: Chen X

PROVIDER: S-EPMC4887887 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature

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Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes.

Chen Xin X Guo Jun J Cai Tao T Zhang Fengshan F Pan Shengfa S Zhang Li L Wang Shaobo S Zhou Feifei F Diao Yinze Y Zhao Yanbin Y Chen Zhen Z Liu Xiaoguang X Chen Zhongqiang Z Liu Zhongjun Z Sun Yu Y Du Jie J

Scientific reports 20160601

Ossification of the posterior longitudinal ligament of the spine (OPLL), which is characterized by ectopic bone formation in the spinal ligaments, can cause spinal-cord compression. To date, at least 11 susceptibility genes have been genetically linked to OPLL. In order to identify potential deleterious alleles in these OPLL-associated genes, we designed a capture array encompassing all coding regions of the target genes for next-generation sequencing (NGS) in a cohort of 55 unrelated patients w ...[more]

PMID: 27246988

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