ArticlePloS one2019
A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 12 citations in OpenAlex.
- A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene.BMC pediatrics · 2025Article
- De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum.Molecular genetics & genomic medicine · 2025Article
- Case Report: A case of Culler-Jones syndrome caused byFrontiers in pediatrics · 2025Article
- Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.International journal of molecular sciences · 2023Review
- Case report: A case of Culler-Jones syndrome caused by a novel mutation ofFrontiers in endocrinology · 2023Review
- The hidden hedgehog of the pituitary: hedgehog signaling in development, adulthood and disease of the hypothalamic-pituitary axis.Frontiers in endocrinology · 2023Review
- Delineation of dual molecular diagnosis in patients with skeletal deformity.Orphanet journal of rare diseases · 2022Article
- The Genetic Backdrop of Hypogonadotropic Hypogonadism.International journal of molecular sciences · 2021Review
- The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes.International journal of molecular sciences · 2021Review
- Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in theJournal of clinical research in pediatric endocrinology · 2020Article
- Role of Signal Transduction Pathways and Transcription Factors in Cartilage and Joint Diseases.International journal of molecular sciences · 2020Review
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGLI2 encodes for a transcription factor that controls the expression of several genes in the Hedgehog pathway. Mutations in GLI2 have been described as causative of a spectrum of clinical phenotypes, notably holoprosencephaly, hypopituitarism and postaxial polydactyl.
methodsIn order to identify causative genetic variant, we performed exome sequencing of a trio from an Italian family with multiple affected individuals presenting clinical phenotypes in the Culler-Jones syndrome spectrum. We performed a series of cell-based assays to test the functional properties of mutant GLI2.
resultsHere we report a novel deletion c.3493delC (p.P1167LfsX52) in the C-terminal activation domain of GLI2. Functional assays confirmed the pathogenicity of the identified variant and revealed a dominant-negative effect of mutant GLI2 on Hedgehog signalling.
conclusionsOur results highlight the variable clinical manifestation of GLI2 mutations and emphasize the value of functional characterisation of novel gene variants to assist genetic counselling and diagnosis.
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