Neurodevelopmental and associated changes in a patient with Xp22.31 duplication
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The Xp22.31 duplication is a copy number variant which clinicopathological significance remains unclear. Although the pathogenicity of Xp22.31 duplication is debatable [1, 2], the patients with Xp22.31 duplication generally present with cognitive and behavioral phenotypes [3, 4]. Seizures are also seen in some patients with Xp22.31 duplication, but the pathological basis of seizures is unknown [3, 4, 5]. Here we report the first case of postmortem neuropathological examination which findings provide novel insight into the pathophysiology of phenotypes with Xp22.31 duplication.
The present case report is dedicated to the memory of Dr. John Fernandes who was the primary pathologist contributing to this case report.
Compliance with ethical standards
Conflict of interest
Dr. Mark Tarnopolsky is the CEO of Exerkine Corporation and the company is working on therapies that target mitochondrial dysfunction; the remaining authors declare that they have no conflict of interest.
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