Identification of a Novel Causative Gene in a Adolescent Idiopathic Scoliosis Family

来源 :第十四次全国医学遗传学学术会议 | 被引量 : 0次 | 上传用户:jjfhui
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  Purpose: The aim of this study was to identify a novel causative gene in a ChineseHan origin family with autosomal-dominant adolescent idiopathic scoliosis, and carry out the preliminary study on pathogenic mechanism.Methods: We performed whole-exome sequencing in two patients and one normal control from the adolescent idiopathic scoliosis family.BWA, SAMtools, Picard, GATK were used for sequence alignment and variations calling.ANNOVAR was used for variants annotation.Validation of mutations and familial segregation was performed using Sanger sequencing.Results: We identified a novel, heterozygous missense mutation in the IS6 gene, co-segregates with the AIS clinical phenotypes.The IS6 was exactly mapped to a previously reported AIS linkage locus, and has been implicated involving in skeleton development.The mutation was absent in dbSNP138, ESP6500, 1000 Genomes and 503 ethnicity-matched controls.
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