在一个受多指畸形影响的中国家庭中，发现了 GLI3 的一种新变体，p.Asp1514Thrfs*5。
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
机构信息
Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
出版信息
Mol Genet Genomic Med. 2022 Jul;10(7):e1968. doi: 10.1002/mgg3.1968. Epub 2022 May 12.
BACKGROUND
Polydactyly is a common congenital malformation characterized by the presence of supernumerary fingers or toes. In this case study, we sought to identify the causative pathogenic factor in a family from a northern region of China affected by non-syndromic postaxial polydactyly (PAP).
METHODS
After recruiting a three-generation family with PAP, whole-exome sequencing was performed to identify the causative variant. In silico analysis and Sanger sequencing were used to validate the variant.
RESULTS
We identified a novel heterozygous frameshift variant (NM_000168.6:c.4540delG, p.Asp1514Thrfs*5) in the transcriptional activator (TA1) domain of the GLI3 gene.
CONCLUSION
The novel frameshift variant identified in this study further confirms the relationship between non-syndromic PAP and GLI3 and extends the previously established mutational and phenotypic spectra of GLI3.
背景
多指（趾）畸形是一种常见的先天性畸形，其特征是存在多余的手指或脚趾。在本病例研究中，我们试图确定一个受非综合征性轴后多指（PAP）影响的中国北方家族的致病因素。
方法
在招募了一个 PAP 三代家族后，我们进行了全外显子组测序以鉴定致病变异。通过计算机分析和 Sanger 测序对变异进行验证。
结果
我们在 GLI3 基因的转录激活（TA1）结构域中发现了一个新的杂合框移变异（NM_000168.6：c.4540delG，p.Asp1514Thrfs*5）。
结论
本研究中发现的新型框移变异进一步证实了非综合征性 PAP 与 GLI3 之间的关系，并扩展了先前建立的 GLI3 突变和表型谱。
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