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Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.
Binaafar, Sima; Garshasbi, Masoud; Tavasoli, Ali Reza; Badv, Reza Shervin; Hosseiny, Seyyed Mohammad Mahdi; Samanta, Debopam; Rabbani, Bahareh; Mahdieh, Nejat.
Afiliación
  • Binaafar S; Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
  • Tavasoli AR; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
  • Badv RS; Children's Hospital Center, Pediatric Center of Excellence, Tehran University of Medical Center, Tehran, Iran.
  • Hosseiny SMM; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
  • Samanta D; Child Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
  • Rabbani B; Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Mahdieh N; Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Dev Neurosci ; 43(6): 348-357, 2021.
Article en En | MEDLINE | ID: mdl-34469883
Early-onset epileptic encephalopathies (EOEE) affect cognitive, sensory, and motor development. Genetic variations are among the identifiable primary causes of these syndromes. However, some patients have been reported to be affected by EOEE without any other clinical symptoms and signs. We study the genotype and phenotype of patients with nonsyndromic early-onset epileptic encephalopathy (NSEOEE) and report 2 novel patients from Iran. A comprehensive search was conducted in PubMed, John Willy, Springer, Elsevier, and Google Scholar databases to collect related information of all the previously reported cases with KCTD7 mutations. Fifty-four patients (from 40 families) were investigated. Using trio-whole-exome sequencing (trio-WES) and Sanger sequencing, the possible genetic causes of the disorder were checked. The probable impacts of the identified variants on the KCTD7 protein structure and function were predicted. This study provided a detailed overview of all published KCTD7 mutations and 2 de novo ones. We identified 2 novel homozygous variants of uncertain significance, c.458 G > A p. Arg153His and c.529C > T (p.Arg177Cys), in KCTD7 (NM_153033.4) (Chr7(GRCh37)). There is a significant wide distribution of the KCTD7 gene causing NSEOEE among different populations. In conclusion, KCTD7 mutations demonstrate a diverse geographical distribution alongside a wide range of ethnicities. This highlights the importance of careful consideration in the WES data analysis. Mutations of this gene may be a common cause of NSEOEE. Also, this study imprints targeted therapeutic opportunities for potassium channelepsies such as KCTD7-related NSEOEE.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías Límite: Humans Idioma: En Revista: Dev Neurosci Año: 2021 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías Límite: Humans Idioma: En Revista: Dev Neurosci Año: 2021 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Suiza