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Review
. 2023 Mar 3:14:1133492.
doi: 10.3389/fendo.2023.1133492. eCollection 2023.

Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review

Yiwen Zhang  1 , Bingzi Dong  1 , Yu Xue  1 , Yunyang Wang  1 , Jing Yan  2 , Lili Xu  1
Affiliations
Review

Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review

Yiwen Zhang et al. Front Endocrinol (Lausanne). .

Abstract

Culler-Jones syndrome is a rare clinical phenomenon with diverse manifestations and is prone to misdiagnosis. We report one patient who presented with a 10-year history of anosmia and a 1-year history of epididymal pain. Kallmann syndrome was suspected initially. The results of his laboratory tests, imaging, and genetic testing, however, combined to provide a conclusive diagnosis of Culler-Jones syndrome. With the aid of high-throughput sequencing technology, the GLI2 gene c.527A>G (p.Tyr176Cys) heterozygous mutation in the child was identified. No published works have yet described this mutation site. We described Culler-Jones syndrome in a child at length. We recommend that Culler-Jones syndrome be taken into account when considering the spectrum of disorders associated with abnormal growth and development in children. Once diagnosed, individualized hormone replacement treatment is required for each patient.

Keywords: Culler-Jones Syndrome; GLI2 gene; anosmia; high- throughput sequencing; hypogonadotropic hypogonadism.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
The bone age radiograph of the patient’s left wrist.
Figure 2
Figure 2
MRI image of the pituitary gland. A nodule in the lower left pituitary is observed.
Figure 3
Figure 3
The peak map of gene sequencing.
See this image and copyright information in PMC

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