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J Child Neurol. 2016 Dec;31(14):1598-1601. Epub 2016 Sep 12.

Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.

Author information

1
Department of Pediatrics, Academic Medical Center, Amsterdam, the Netherlands.
2
Department of Pediatric Neurology, Academic Medical Center, Amsterdam, the Netherlands.
3
Department of Medical Genetics, Academic Medical Center, Amsterdam, the Netherlands.
4
Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands.
5
Department of Pediatrics, Academic Medical Center, Amsterdam, the Netherlands j.m.cobben@amc.uva.nl jan.cobben@stgeorges.nhs.uk.
6
Department of Clinical Genetics, St George's University Hospital, London, UK.

Abstract

In 2 unrelated patients with axial hypotonia, developmental delay and a hyperkinetic movement disorder, a missense mutation was found in codon 209 of the GNAO1 gene. From the still scarce literature on GNAO1 mutations, a clear genotype-phenotype correlation emerged. From the 26 patients reported thus far, 12 patients had epileptic encephalopathy, and 14 had a developmental delay and a hyperkinetic movement disorder. All but 1 of the latter patients had missense mutations in GNAO1 codon 209 or 246, which thus appear to be mutation hotspots. At least 2 sibling pairs showed that the recurrence risk after 1 affected child with a GNAO1 mutation might be relatively high (5-15%), due to apparent gonadal mosaicism in the parents.

KEYWORDS:

GNAO1 ; chorea; developmental delay; dystonia; epileptic encephalopathy

PMID:
27625011
DOI:
10.1177/0883073816666474
[Indexed for MEDLINE]

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