# Case Report: A case of Culler-Jones syndrome caused by GLI2 gene mutation

## TL;DR

A rare genetic condition called Culler-Jones syndrome is reported in a newborn with a new GLI2 gene mutation, helping to expand understanding of its symptoms and diagnosis.

## Contribution

A novel maternally inherited nonsense variant in the GLI2 gene is identified in a Culler-Jones syndrome case.

## Key findings

- The patient presented with postaxial polydactyly, growth restriction, and seizures.
- Whole-exome sequencing revealed a heterozygous nonsense variant in the GLI2 gene.
- The mutation was confirmed by Sanger sequencing and is maternally inherited.

## Abstract

Culler-Jones syndrome (CJS) (OMIM: 615849) is a rare genetic condition characterized by considerable phenotypic variability. This case reports a 5-day-old male neonate who presented with postaxial polydactyly, growth restriction, and recurrent epileptic seizures. A thorough clinical workup, including laboratory investigations, imaging, and genetic analysis, resulted in a confirmed diagnosis of Culler-Jones syndrome. Peripheral blood samples collected from the proband and his parents were used for DNA extraction. Whole-exome sequencing (WES) identified a heterozygous nonsense variant in the GLI2 gene, [c.2137(exon13)G>T/p.(E713,857) (NM_001374353)], which was subsequently validated by Sanger sequencing and determined to be maternally inherited. This mutation has not been previously documented in the literature. By detailing the clinical presentation, genetic findings, and relevant context, this case report aims to broaden the known phenotypic spectrum of Culler-Jones syndrome and support clinicians in early detection and diagnosis.