ArticleBMC pediatrics2025
A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene.
Article in BMC pediatrics, 2025. 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.
- Severity-stratified genetic diagnosis by trio exome sequencing in isolated fetal growth restriction.Frontiers in genetics · 2026Article
- Case Report: A case of Culler-Jones syndrome caused byFrontiers in pediatrics · 2025Article
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3 authors.
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Abstract
backgroundCuller-Jones syndrome (CJS)(OMIM: 615849) is a rare genetic disorder characterized by multiple anterior pituitary hormone deficiencies and variable polydactyly, caused by mutations in the GLI2 gene (OMIM: 165230). CASE PRESENTATION: A 9-year- and 8-month-old male presented with multiple anterior pituitary hormone deficiencies and sensorineural deafness. Brain magnetic resonance imaging (MRI) demonstrated the pituitary stalk interruption syndrome (PSIS), characterized by anterior pituitary hypoplasia, absent pituitary stalk, and ectopic neurohypophysis.Whole-exome sequencing(WES) identified a heterozygous nonsense mutation (c.3640 C > T) in the GLI2 gene, likely resulting in premature protein truncation.
conclusionsIn this study, we document a novel GLI2 gene mutation linked to Culler-Jones syndrome.
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