Objective

We report a novel GLI2 frameshift mutation and describe the phenotypic spectrum of mutations within this gene.

Patients and methods

A male with congenital hypopituitarism and polymalformation syndrome was clinically, biochemically and neuroradiologically characterized. Genetic analysis for congenital hypopituitarism was performed using a targeted NGS custom gene panel.

Results

A heterozygous frameshift mutation, NM_005270.4:c.2125del, p.(Leu709Trpfs*15), was identified in GLI2 exon 12. This mutation has not been previously reported and confirms the diagnosis of Culler-Jones syndrome (MIM #615849).

Conclusion

GLI2 mutations should be suspected in the presence of congenital hypopitutarism, characteristic facial abnormalities and polydactyly.

中文翻译：

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导致先天性垂体功能低下和多畸形综合征的新型GLI2突变。

目的

我们报告了一种新型的GLI2移码突变，并描述了该基因内突变的表型谱。

患者和方法

对具有先天性垂体功能低下和多畸形综合征的男性进行了临床，生化和神经放射学表征。先天性垂体功能低下症的遗传分析是使用靶向的NGS自定义基因组进行的。

结果

在GLI2外显子12中鉴定出一个杂合的移码突变NM_005270.4：c.2125del，p。（Leu709Trpfs * 15）。该突变以前未见报道，证实了Culler-Jones综合征的诊断（MIM＃615849）。

结论

先天性垂体功能低下，特征性面部异常和多发性存在时，应怀疑存在GLI2突变。