Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature

Child Neurology Open
Inga TalvikTiina Talvik

Abstract

Mutations in the guanine nucleotide-binding protein (G protein), α activating activity polypeptide O (GNAO1) gene have recently been described in 6 patients with early infantile epileptic encephalopathies. In the present study, we report the phenotype and the clinical course of a 4-year-old female with an epileptic encephalopathy (Ohtahara syndrome) and profound intellectual disability due to a de novo GNAO1 mutation (c.692A>G; p.Tyr231Cys). Ohtahara syndrome is a devastating early infantile epileptic encephalopathy that can be caused by mutations in different genes, now also including GNAO1. The mutation was found using a targeted next generation sequencing gene panel and demonstrates targeted sequencing as a powerful tool for identifying mutations in genes where only a few de novo mutations have been identified.

References

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Sep 30, 2014·American Journal of Human Genetics·UNKNOWN EuroEPINOMICS-RES ConsortiumUNKNOWN Epi4K Consortium

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Citations

Mar 31, 2017·Neurology. Genetics·Federica Rachele DantiRenzo Guerrini
Aug 18, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Theodora U J BruunSaadet Mercimek-Andrews
Sep 19, 2017·Journal of Biomolecular Structure & Dynamics·Valentina BrandiFabio Polticelli
Jun 28, 2018·Journal of Inherited Metabolic Disease·Lucia Abela, Manju A Kurian
Oct 11, 2020·Biomedicines·Mikhail SavitskyVladimir L Katanaev
Dec 11, 2020·Orphanet Journal of Rare Diseases·Soo Yeon KimJong-Hee Chae
Aug 28, 2021·Journal of Clinical Medicine·Federica GraziolaAlessandro Capuano
Sep 12, 2021·Human Molecular Genetics·Dandan WangBrock Grill

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Methods Mentioned

BETA
Chip
exome sequencing

Software Mentioned

Sift
EuroEPINOMICS
PolyPhen

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