ArticleAmerican journal of human genetics1999
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 185 citations in OpenAlex.
- FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Trial
- Inherited non-syndromic polydactyly in a Berber and Arabian-Berber horse family.Equine veterinary journal · 2025Article
- Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.Journal of orthopaedic surgery and research · 2024Article
- A novelHeliyon · 2024Article
- Postaxial polydactyly: A case report highlighting genetic context, epidemiological trends, and management options.SAGE open medical case reports · 2024Article
- Identification of ancestral gnathostome Gli3 enhancers with activity in mammals.Development, growth & differentiation · 2024Article
- Understanding the Roles of the Hedgehog Signaling Pathway during T-Cell Lymphopoiesis and in T-Cell Acute Lymphoblastic Leukemia (T-ALL).International journal of molecular sciences · 2023Review
- Hedgehog-GLI mediated control of renal formation and malformation.Frontiers in nephrology · 2023Review
- Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.HGG advances · 2022Article
- Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis ofInternational journal of molecular sciences · 2022Article
- Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.Journal of medical genetics · 2021Article
- The Story of the Hand.Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India · 2021Article
- Article
- Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.Human genetics · 2021Review
- Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.Journal of cellular and molecular medicine · 2020Article
- A Novel NonsenseFrontiers in genetics · 2020Article
- Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.Molecular genetics & genomic medicine · 2019Article
- Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.Human genetics · 2019Article
- Pallister-Hall Syndrome Presenting in Adolescence.Case reports in genetics · 2019Article
- Targeting Smoothened as a New Frontier in the Functional Recovery of Central Nervous System Demyelinating Pathologies.International journal of molecular sciences · 2018Review
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Functional characterization of a gene often requires the discovery of the full spectrum of its associated phenotypes. Mutations in the human GLI3 gene have been identified in Greig cepalopolysyndactyly, Pallister-Hall syndrome (PHS), and postaxial polydactyly type-A (PAP-A). We studied the involvement of GLI3 in additional phenotypes of digital abnormalities in one family (UR003) with preaxial polydactyly type-IV (PPD-IV), three families (UR014, UR015, and UR016) with dominant PAP-A/B (with PPD-A and -B in the same family), and one family with PHS. Linkage analysis showed no recombination with GLI3-linked polymorphisms. Family UR003 had a 1-nt frameshift insertion, resulting in a truncated protein of 1,245 amino acids. A frameshift mutation due to a 1-nt deletion was found in family UR014, resulting in a truncated protein of 1,280 amino acids. Family UR015 had a nonsense mutation, R643X, and family UR016 had a missense mutation, G727R, in a highly conserved amino acid of domain 3. The patient with PHS had a nonsense mutation, E1147X. These results add two phenotypes to the phenotypic spectrum caused by GLI3 mutations: the combined PAP-A/B and PPD-IV. These mutations do not support the suggested association between the mutations in GLI3 and the resulting phenotypes. We propose that all phenotypes associated with GLI3 mutations be called "GLI3 morphopathies," since the phenotypic borders of the resulting syndromes are not well defined and there is no apparent genotype-phenotype correlation.
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