Work

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

Year: 2025

Type: article

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

Source: BMC Pediatrics

DOI: 10.1186/s12887-025-06135-0

Authors: Xuewen Yuan, Shanshan Chu, Wei Gu

Institutions: Second Affiliated Hospital of Nanjing Medical University, Nanjing Medical University

Language: English

Topic: Pituitary Gland Disorders and Treatments

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,090