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Pediatr Neurol. 2017 Nov;76:82-85. doi: 10.1016/j.pediatrneurol.2017.07.010. Epub 2017 Jul 19.

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

Author information

1
Division of Pediatric Neurology, McMaster University, Hamilton, Ontario, Canada.
2
Department of Pathology (Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada.
3
Departments of Pediatrics and Medicine, McMaster University, Hamilton, Ontario, Canada.
4
Division of Pediatric Neurology, McMaster University, Hamilton, Ontario, Canada. Electronic address: roneng@mcmaser.ca.

Abstract

BACKGROUND:

Ogden syndrome is a rare X-linked disorder caused by pathogenic variants in the NAA10 gene. This syndrome, reported in just over 20 children, has been associated with dysmorphic features, failure to thrive, developmental impairments, hypotonia, and cardiac arrhythmias.

PATIENT DESCRIPTION:

We describe 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. Magnetic resonance imaging 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.

CONCLUSIONS:

We have identified additional evolving neurological impairments in this, to date, oldest documented girl with Ogden syndrome. We recommend screening patients with Ogden syndrome for these newly identified features of early life trajectories to guide management.

KEYWORDS:

NAA10 gene; Ogden syndrome; X-linked condition; acetyltransferase; evolving neurological condition; genetic syndrome; hypersomnolence; levodopa; movement disorder

[Indexed for MEDLINE]

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