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Background <p>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).</p> Case presentation <p>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 (<i>c.3640&#xa0;C &gt; T</i>) in the <i>GLI2</i> gene, likely resulting in premature protein truncation.</p> Conclusions <p>In this study, we document a novel <i>GLI2</i> gene mutation linked to Culler-Jones syndrome.</p>

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

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  • 发表日期：

    2025年10月28日

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  • Xuewen Yuan,
  • Shanshan Chu,
  • Wei Gu

摘要

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.