A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.

Yusi Wang, Xuguang Hao, Xueyuan Jia, Wei Ji, Shuai Yuan, Estelle Judith Abla Gnamey, Min Huang, Lidan Xu, Xuelong Zhang, Jing Bai, Wenjing Sun, Songbin Fu, Yong Liu, Jie Wu

Molecular genetics & genomic medicine 2022 Jul

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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). 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. 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. 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. © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

Citation

Yusi Wang, Xuguang Hao, Xueyuan Jia, Wei Ji, Shuai Yuan, Estelle Judith Abla Gnamey, Min Huang, Lidan Xu, Xuelong Zhang, Jing Bai, Wenjing Sun, Songbin Fu, Yong Liu, Jie Wu. A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly. Molecular genetics & genomic medicine. 2022 Jul;10(7):e1968