ArticleJournal of medical genetics2021
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.
Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.Journal of orthopaedic surgery and research · 2024Article
- GLIS Family Zinc Finger 1 was First Linked With Preaxial Polydactyly I in Humans by Stepwise Genetic Analysis.Frontiers in cell and developmental biology · 2021Article
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Authors and funding
7 authors.
Funding
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Abstract
introductionPathogenic DNA variants in the GLI-Kruppel family member 3 (
methodsBoth local and published cases were included for analysis. The presence of individual limb phenotypes was dichotomised and an exploratory LCA was performed. Distribution of phenotypes and genotypes over the classes were explored and subsequently the key predictors of latent class membership were correlated to the different clustered genotypes.
results297 cases were identified with 127 different variants in the
conclusionThere are two distinct phenotypes within the GLI3-mediated polydactyly population: anteriorly and posteriorly orientated. Variants that likely produce haploinsufficiency are associated with anterior phenotypes. Posterior phenotypes are associated with truncating variants in the activator domain. Patients with these truncating variants have a greater risk for corpus callosum anomalies.
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