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

In 1984, Culler and Jones already described the characteristics of Culler-Jones syndrome: postaxial polydactyly, multiple pituitary hormone deficiencies, dysmorphic facial features and autosomal dominant pattern of inheritance. The disease's clinical phenomenology and gene mutation sites have been continuously expanded as more cases have been reported globally. We report a case of a child with anosmia, partial GH deficiency, hypogonadotropic hypogonadism and secondary low bone mass, in which high-throughput gene sequencing suggested a missense mutation in GLI2 gene c.527A>G (p.Tyr176Cys). This mutation site has not yet been documented in any published works. On the one hand, we anticipate that our discovery will spark researchers' interest in this novel site and lead to the development of functional testing for this gene. On the other hand, we hope to broaden clinicians' knowledge of diseases related to growth and development delays in children, so that patients with similar manifestations can be distinguished carefully with Culler-Jones syndrome. In conclusion, this case report can not only aid in fundamental scientific research and provide direction for basic experiments, but it can also widen clinicians' perspectives on diagnosis and treatment, enabling more children with uncommon disorders to obtain early diagnosis and treatment.