METHODS: Three pedigrees of polydactyly patients were enrolled from Hunan Province, China. Pathogenic variants were identified by whole-exome sequencing (WES) and Sanger sequencing.
RESULTS: Three variants in GLI3 were identified in three unrelated families, including a novel deletion variant (c.1372del, p.Thr458GlnfsTer44), a novel insertion-deletion (indel) variant (c.1967_1968delinsAA, p.Ser656Ter), and a nonsense variant (c.2374 C > T, p.Arg792Ter). These variants were present exclusively in patients but not in healthy individuals.
CONCLUSIONS: We identified three pathogenic GLI3 variants in polydactyly patients, broadening the genetic spectrum of GLI3 and contributing significantly to genetic counseling and diagnosis for polydactyly.
方法:选取湖南省3家多指患者,中国。通过全外显子组测序(WES)和Sanger测序鉴定致病变体。
结果:在三个不相关的家族中鉴定出GLI3的三个变异体,包括一个新的缺失变体(c.1372del,p.Thr458GlnfsTer44),一个新的插入-删除(indel)变体(c.1967_1968delinsAA,p.Ser656Ter),和无义变体(c.2374C>T,p.Arg792Ter)。这些变体仅存在于患者中,而不存在于健康个体中。
结论:我们在多指患者中发现了三种致病性GLI3变异,拓宽GLI3的遗传谱,并为多指的遗传咨询和诊断做出重要贡献。