Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant.

Autor: De Bernardi ML; Department of Translational Medicine, Federico II University, Naples, Italy., Di Stazio A; Department of Translational Medicine, Federico II University, Naples, Italy., Romano A; Department of Translational Medicine, Federico II University, Naples, Italy., Minardi R; IRCCS, Istituto delle Scienze Neurologiche di Bologna (Reference Center for Rare and Complex Epilepsies-EpiCARE), Bologna, Italy., Bisulli F; IRCCS, Istituto delle Scienze Neurologiche di Bologna (Reference Center for Rare and Complex Epilepsies-EpiCARE), Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Licchetta L; IRCCS, Istituto delle Scienze Neurologiche di Bologna (Reference Center for Rare and Complex Epilepsies-EpiCARE), Bologna, Italy., Aiello S; Department of Translational Medicine, Federico II University, Naples, Italy., Carelli V; IRCCS, Istituto delle Scienze Neurologiche di Bologna (Reference Center for Rare and Complex Epilepsies-EpiCARE), Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy. Electronic address: g.cappuccio@tigem.it., Terrone G; Department of Translational Medicine, Federico II University, Naples, Italy. Electronic address: gaetanoterrone@virgilio.it.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2022 May; Vol. 65 (5), pp. 104500. Date of Electronic Publication: 2022 Apr 01.
DOI: 10.1016/j.ejmg.2022.104500
Abstrakt: GRIN2A encodes for the 2A subunit of N-methyl-D-aspartate receptors. Pathogenic variants in GRIN2A have been associated with a wide spectrum of neurodevelopmental disorders ranging from speech disorders and/or self-limiting epilepsy (childhood epilepsy with centrotemporal spikes) to severe and disabling phenotypes (atypical childhood epilepsy with centrotemporal spikes, epileptic encephalopathy with continuous spike-wave during sleep, Landau-Kleffner syndrome and infantile-onset epileptic encephalopathy). Here we describe a family with two affected sisters with atypical childhood epilepsy with centrotemporal spikes and their mildly affected mother carrying a novel N-terminal null variant in GRIN2A gene. These familial cases corroborate previous studies showing that loss-of-function GRIN2A variants are associated with milder phenotypes, possibly due to haploinsufficiency.
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Databáze: MEDLINE
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