Article
Two Novel Frameshift Mutations in the GLI3 Gene Underlie Non-Syndromic Polydactyly in Chinese Families.
Genetic testing and molecular biomarkers - 1 Sept 2023
Guo Xiaoyan, Shi Tengfei, Lin Mingrui, Liu Boling, Pan Yuancheng
Abstract excerpt
Objective: Polydactyly is characterized by multiple distinct heterogeneous phenotypes, the etiologies of which involve several genes. This study aimed to explore the genetic defects and further clarify the molecular mechanism of polydactyly in several Chinese families. Methods: Three families with diverse phenotypes of non-syndromic polydactyly were analyzed: two were cases of familial disease, whereas one was...
Topics
- Female
- Humans
- Male
- China
- Frameshift Mutation
- Heterozygote
- Homeodomain Proteins
- Introns
- Nerve Tissue Proteins
- Nonsense Mediated mRNA Decay
- Pedigree
- Phenotype
- Polydactyly
- Transcription Factors
- Zinc Finger Protein Gli3
- East Asian People