Analysis of DIAPH3 gene mutation in a boy with autism spectrum disorder / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the clinical manifestations and gene mutation of a 6 year old boy with autism spectrum disorders (ASD).</p><p><b>METHODS</b>Peripheral blood of the boy and his parents were subjected to genetic testing.</p><p><b>RESULTS</b>The patient was diagnosed with typical autism. Exome sequencing has identified mutations of four candidate genes, namely TUT1, DIAPH3, REELIN and SETD2, which were confirmed with Sanger sequencing. Analysis of family members confirmed that the missense mutations of DIAPH3 and SETD2 genes were of de novo origin.</p><p><b>CONCLUSION</b>Missense mutations of DIAPH3 and SETD2 genes may have contributed to the risk of ASD. Disrupted neurogenesis associated with such mutations may have been the underlying mechanism for ASD.</p>