Your browser doesn't support javascript.
loading
De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures.
Kochetkova, Taisiya O; Maslennikov, Dmitry N; Tolmacheva, Ekaterina R; Shubina, Jekaterina; Bolshakova, Anna S; Suvorova, Dzhenneta I; Degtyareva, Anna V; Orlovskaya, Irina V; Kuznetsova, Maria V; Rachkova, Anastasia A; Sukhikh, Gennady T; Rebrikov, Denis V; Trofimov, Dmitriy Yu.
Afiliação
  • Kochetkova TO; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Maslennikov DN; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Tolmacheva ER; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Shubina J; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Bolshakova AS; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Suvorova DI; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Degtyareva AV; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Orlovskaya IV; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Kuznetsova MV; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Rachkova AA; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Sukhikh GT; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Rebrikov DV; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
  • Trofimov DY; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
Genes (Basel) ; 14(2)2023 01 31.
Article em En | MEDLINE | ID: mdl-36833293
BACKGROUND: The reduction in next-generation sequencing (NGS) costs allows for using this method for newborn screening for monogenic diseases (MDs). In this report, we describe a clinical case of a newborn participating in the EXAMEN project (ClinicalTrials.gov Identifier: NCT05325749). METHODS: The child presented with convulsive syndrome on the third day of life. Generalized convulsive seizures were accompanied by electroencephalographic patterns corresponding to epileptiform activity. Proband WES expanded to trio sequencing was performed. RESULTS: A differential diagnosis was made between symptomatic (dysmetabolic, structural, infectious) neonatal seizures and benign neonatal seizures. There were no data in favor of the dysmetabolic, structural, or infectious nature of seizures. Molecular karyotyping and whole exome sequencing were not informative. Trio WES revealed a de novo variant in the KCNJ9 gene (1:160087612T > C, p.Phe326Ser, NM_004983), for which, according to the OMIM database, no association with the disease has been described to date. Three-dimensional modeling was used to predict the structure of the KCNJ9 protein using the known structure of its homologs. According to the predictions, Phe326Ser change possibly disrupts the hydrophobic contacts with the valine side chain. Destabilization of the neighboring structures may undermine the formation of GIRK2/GIRK3 tetramers necessary for their proper functioning. CONCLUSIONS: We believe that the identified variant may be the cause of the disease in this patient but further studies, including the search for other patients with the KCNJ9 variants, are needed.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Canais de Potássio Corretores do Fluxo de Internalização Acoplados a Proteínas G / Doenças do Recém-Nascido Tipo de estudo: Prognostic_studies Limite: Child / Humans / Newborn Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Canais de Potássio Corretores do Fluxo de Internalização Acoplados a Proteínas G / Doenças do Recém-Nascido Tipo de estudo: Prognostic_studies Limite: Child / Humans / Newborn Idioma: En Ano de publicação: 2023 Tipo de documento: Article