Dear Editor,Scoliosis is an abnormal lateral curvature of the spine with Cobb angle more than 10◦.1 The detailed genetic etiology and underlying mechanisms of this disease are still unclear.We identified three pathoge...Dear Editor,Scoliosis is an abnormal lateral curvature of the spine with Cobb angle more than 10◦.1 The detailed genetic etiology and underlying mechanisms of this disease are still unclear.We identified three pathogenic variants in the RUNX2 gene(p.Ala173LeufsTer3,p.Arg225Gln,and pArg190Trp)in three patients with scoliosis by whole-exome or-genome sequencing and confirmed by BAM files(Figure 1A).展开更多
基金supported by the National Natural Science Foundation of China(NSFC)(grants 82394445,82030067,and 82161160342 to D.C.and 82202656 to Z.L.)Shenzhen Medical Research Funds B2502005 to D.C.+4 种基金the CAMS Innovation Fund for Medical Sciences(CIFMS)(2021-I2M-1-051 to N.W.,2021-I2M-1-052 and 2022-I2M-2001 to Z.W.)Beijing Natural Science Foundation(7244389 to L.Z.)the National High Level Hospital Clinical Research Funding(2022-PUMCH-D-004 to N.W.,2022-PUMCHD-002 to Z.W.)the National Key Research and Development Program of China(2023YFC2507700 and 2022YFC2703102 to N.W.,2022YFC2703901 to Z.W.)the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences(2019PT320025 to N.W.).
文摘Dear Editor,Scoliosis is an abnormal lateral curvature of the spine with Cobb angle more than 10◦.1 The detailed genetic etiology and underlying mechanisms of this disease are still unclear.We identified three pathogenic variants in the RUNX2 gene(p.Ala173LeufsTer3,p.Arg225Gln,and pArg190Trp)in three patients with scoliosis by whole-exome or-genome sequencing and confirmed by BAM files(Figure 1A).
