ArticleJournal of orthopaedic surgery and research2024
Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.
Article in Journal of orthopaedic surgery and research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Genomic Landscape and Perinatal Outcomes of Fetal Polydactyly: A Retrospective Cohort Study Integrating CNV-seq and Trio-ES.Prenatal diagnosis · 2026Article
- Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.Molecular genetics & genomic medicine · 2025Article
- The molecular characterization of seven novel GLI family zinc finger 3 (Frontiers in genetics · 2025Article
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Authors and funding
7 authors.
Funding
Abstract
backgroundPolydactyly is a prevalent congenital anomaly with an incidence of 2.14 per 1000 live births in China. GLI family zinc finger 3 (GLI3) is a classical causative gene of polydactyly, and serves as a pivotal transcription factor in the hedgehog signaling pathway, regulating the development of the anterior-posterior axis in limbs.
methodsThree pedigrees of polydactyly patients were enrolled from Hunan Province, China. Pathogenic variants were identified by whole-exome sequencing (WES) and Sanger sequencing.
resultsThree 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.
conclusionsWe identified three pathogenic GLI3 variants in polydactyly patients, broadening the genetic spectrum of GLI3 and contributing significantly to genetic counseling and diagnosis for polydactyly.
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