Clinical Manifestations Associated with the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Female: Ogden Syndrome.

Publication date: Available online 19 July 2017
Source:Pediatric Neurology
Author(s): Mandeep Sidhu, Lauren Brady, Mark Tarnopolsky, Gabriel M. Ronen
BackgroundOgden syndrome is a rare X-linked disorder caused by pathogenic variants in the NAA10 gene. This syndrome, reported in just over twenty children, has been associated with dysmorphic features, failure to thrive, developmental impairments, hypotonia, and cardiac arrhythmias.Case studyWe report a 14-year-old girl who presented in infancy with hypotonia, global developmental delay, and dysmorphic features. She later developed autism spectrum disorder, epileptic encephalopathy, extrapyramidal signs, early morning lethargy with hypersomnolence, and hypertension with left ventricular hypertrophy. MRI showed a thin corpus callosum and progressive white matter loss. Whole exome sequencing identified a de novo pathogenic variant in the NAA10 gene (c.247C>T, p.R83C). Much of her early presentation was in keeping with what has been previously described with Ogden syndrome.ConclusionWe have identified additional evolving neurological impairments in this to date oldest described female with Ogden syndrome. We recommend screening patients with Ogden syndrome for these newly identified features of early life trajectories to guide management.



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