A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene

Culler-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). 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. In this study, we document a novel GLI2 gene mutation linked to Culler-Jones syndrome.