LIG Audit Status

<jats:p>The bones of the skull are held together by fibrous joints called sutures. Premature fusion of these sutures leads to a pathologic condition called as craniosynostosis. Although at least 50 nuclear genes including <jats:italic>FGFR2</jats:italic>, <jats:italic>TWIST1</jats:italic>, <jats:italic>TCF12</jats:italic>, and <jats:italic>SMAD6</jats:italic> were identified as causative of craniosynostosis; only 25% of the patients can be genetically diagnosed. Here, we report a 3‐year‐old Turkish Caucasian boy with sagittal craniosynostosis with a de novo loss‐of‐function mutation in exon 4 of the <jats:italic>AXIN2</jats:italic> gene for the first time. The patient has frontal bossing, high anterior hair line, depressed nasal bridge, bilateral epicanthus and low set ears which are correlated with his scaphocephaly. As a negative regulator of the Wnt signaling pathway which is one of the key modulators of craniosynostosis syndrome, it has been shown in model organisms that Axin2 orchestrates the regulation of beta‐catenin especially in the intramembranous ossification process. This clinical report adds value to the literature that <jats:italic>AXIN2</jats:italic> gene mutations could be a potential cause in human calvarial malformations, especially for the sagittal synostosis.</jats:p>