METHODS: The whole exome sequencing of proband was performed followed by Sanger sequencing of all family members of the subject to validate the variant segregation within the family. Bioinformatics tools were utilized to assess the pathogenicity of the variant.
RESULTS: Whole Exome Sequencing revealed a novel variant (NM_001457: c.209C>T and p.Pro70Leu) in the FLNB gene which was homozygous missense mutation in the FLNB gene. The variant was further validated and visualized by Sanger sequencing and protein structure studies respectively as mentioned before.
CONCLUSIONS: The findings have highlighted the importance of the molecular diagnosis in SCT (spondylocarpotarsal synostosis syndrome) for genetic risk counselling in consanguineous families.
方法:先证者的全外显子组测序,然后对受试者的所有家族成员进行Sanger测序,以验证家族内的变异分离。生物信息学工具用于评估变体的致病性。
结果:全外显子组测序揭示了FLNB基因中的新变体(NM_001457:c.209C>T和p.Pro70Leu),其在FLNB基因中是纯合错义突变。如前所述,分别通过Sanger测序和蛋白质结构研究进一步验证和可视化变体。
结论:研究结果强调了分子诊断在SCT(脊骨关节滑脱综合征)中对近亲家庭遗传风险咨询的重要性。