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Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene
Genetic alterations in the WW domain-containing oxidoreductase (WWOX) gene cause autosomal recessive developmental and epileptic encephalopathy, characterized by the onset of refractory seizures in infants, along with severe axial hypotonia and profoundly impaired psychomotor development. It has als...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9193507/ https://www.ncbi.nlm.nih.gov/pubmed/35712340 http://dx.doi.org/10.7759/cureus.25003 |
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author | Sukkar, Ghassan Alzahrani, Razan M Altirkistani, Bsaim A Al lohaibi, Rayan S |
author_facet | Sukkar, Ghassan Alzahrani, Razan M Altirkistani, Bsaim A Al lohaibi, Rayan S |
author_sort | Sukkar, Ghassan |
collection | PubMed |
description | Genetic alterations in the WW domain-containing oxidoreductase (WWOX) gene cause autosomal recessive developmental and epileptic encephalopathy, characterized by the onset of refractory seizures in infants, along with severe axial hypotonia and profoundly impaired psychomotor development. It has also been expanded to include metabolism and endocrine systems. Despite its function as a tumor suppressor gene, genetic alterations in WWOX have been found in several metabolic disorders and neural diseases related to brain development. Whole-exome sequencing (WES) was performed on the patient sample. Genomic DNA was fragmented, and the exons of known genes in the human genome, as well as the corresponding exon-intron boundaries,were enriched using Roche KAPA capture technology (KAPA hyperExome Library, WES identifying the homozygous variant c.406A>G in WWOX (OMIM:605131). This variant of WWOX was also observed in the prenatal WES data, indicating that both parents were heterozygous carriers and the detected variant was homozygous. This study highlighted the importance of the human WWOX gene in brain development and the association between WWOX gene mutations and developmental delay. We recommend performing WES as a primary screening before the final diagnosis, particularly in populations with high rates of consanguinity and in clinically challenging cases. |
format | Online Article Text |
id | pubmed-9193507 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-91935072022-06-15 Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene Sukkar, Ghassan Alzahrani, Razan M Altirkistani, Bsaim A Al lohaibi, Rayan S Cureus Genetics Genetic alterations in the WW domain-containing oxidoreductase (WWOX) gene cause autosomal recessive developmental and epileptic encephalopathy, characterized by the onset of refractory seizures in infants, along with severe axial hypotonia and profoundly impaired psychomotor development. It has also been expanded to include metabolism and endocrine systems. Despite its function as a tumor suppressor gene, genetic alterations in WWOX have been found in several metabolic disorders and neural diseases related to brain development. Whole-exome sequencing (WES) was performed on the patient sample. Genomic DNA was fragmented, and the exons of known genes in the human genome, as well as the corresponding exon-intron boundaries,were enriched using Roche KAPA capture technology (KAPA hyperExome Library, WES identifying the homozygous variant c.406A>G in WWOX (OMIM:605131). This variant of WWOX was also observed in the prenatal WES data, indicating that both parents were heterozygous carriers and the detected variant was homozygous. This study highlighted the importance of the human WWOX gene in brain development and the association between WWOX gene mutations and developmental delay. We recommend performing WES as a primary screening before the final diagnosis, particularly in populations with high rates of consanguinity and in clinically challenging cases. Cureus 2022-05-14 /pmc/articles/PMC9193507/ /pubmed/35712340 http://dx.doi.org/10.7759/cureus.25003 Text en Copyright © 2022, Sukkar et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Genetics Sukkar, Ghassan Alzahrani, Razan M Altirkistani, Bsaim A Al lohaibi, Rayan S Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene |
title | Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene |
title_full | Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene |
title_fullStr | Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene |
title_full_unstemmed | Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene |
title_short | Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene |
title_sort | novel mutation with literature review ww domain-containing oxidoreductase (wwox) gene |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9193507/ https://www.ncbi.nlm.nih.gov/pubmed/35712340 http://dx.doi.org/10.7759/cureus.25003 |
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