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The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report

INTRODUCTION: Angelman Syndrome (AS) is a rare disorder with a relatively well-defined phenotype caused by lack of expression of the maternally inherited ubiquitin-protein ligase E3A (UBE3A) gene in the brain. This article describes the role of genetic testing using whole-exome sequencing (WES) in d...

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Autores principales: Triono, Agung, Iskandar, Kristy, Nugrahanto, Andika Priamas, Hadiyanto, Marissa Leviani, Gunadi, Herini, Elisabeth Siti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683671/
https://www.ncbi.nlm.nih.gov/pubmed/34976390
http://dx.doi.org/10.1016/j.amsu.2021.103170
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author Triono, Agung
Iskandar, Kristy
Nugrahanto, Andika Priamas
Hadiyanto, Marissa Leviani
Gunadi
Herini, Elisabeth Siti
author_facet Triono, Agung
Iskandar, Kristy
Nugrahanto, Andika Priamas
Hadiyanto, Marissa Leviani
Gunadi
Herini, Elisabeth Siti
author_sort Triono, Agung
collection PubMed
description INTRODUCTION: Angelman Syndrome (AS) is a rare disorder with a relatively well-defined phenotype caused by lack of expression of the maternally inherited ubiquitin-protein ligase E3A (UBE3A) gene in the brain. This article describes the role of genetic testing using whole-exome sequencing (WES) in detecting rare AS variants, a point mutation in the UBE3A gene. CASE PRESENTATION: We describe a rarely reported clinical presentation of AS in a two year and ten months old girl with severe developmental delay, movement and balance disorder, frequent smiling, apparent happy demeanor, speech impairment, absence of seizure, lack of sleep, and abnormal food-related behavior. Physical examination showed microcephaly, with facial characteristics of AS, ataxia gait, and truncal hypotonia. The electroencephalogram showed medium amplitude rhythmic 2-3c/s. Brain Magnetic Resonance Imaging revealed microcephaly, corpus callosum dysgenesis, and heterotopia grey matter on the bilateral lateral ventricle. WES was conducted to search pathogenic variants and showed a heterozygous mutation in exon 9 of the UBE3A gene, c.1513C > T (p.Arg505Ter). CONCLUSION: Angelman syndrome is a neurodevelopmental disorder that has several underlying genetic etiologies. WES could detect a rare variant of Angelman syndrome, identified as the point mutation of the UBE3A gene, which cannot be seen with other modalities.
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spelling pubmed-86836712021-12-30 The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report Triono, Agung Iskandar, Kristy Nugrahanto, Andika Priamas Hadiyanto, Marissa Leviani Gunadi Herini, Elisabeth Siti Ann Med Surg (Lond) Case Report INTRODUCTION: Angelman Syndrome (AS) is a rare disorder with a relatively well-defined phenotype caused by lack of expression of the maternally inherited ubiquitin-protein ligase E3A (UBE3A) gene in the brain. This article describes the role of genetic testing using whole-exome sequencing (WES) in detecting rare AS variants, a point mutation in the UBE3A gene. CASE PRESENTATION: We describe a rarely reported clinical presentation of AS in a two year and ten months old girl with severe developmental delay, movement and balance disorder, frequent smiling, apparent happy demeanor, speech impairment, absence of seizure, lack of sleep, and abnormal food-related behavior. Physical examination showed microcephaly, with facial characteristics of AS, ataxia gait, and truncal hypotonia. The electroencephalogram showed medium amplitude rhythmic 2-3c/s. Brain Magnetic Resonance Imaging revealed microcephaly, corpus callosum dysgenesis, and heterotopia grey matter on the bilateral lateral ventricle. WES was conducted to search pathogenic variants and showed a heterozygous mutation in exon 9 of the UBE3A gene, c.1513C > T (p.Arg505Ter). CONCLUSION: Angelman syndrome is a neurodevelopmental disorder that has several underlying genetic etiologies. WES could detect a rare variant of Angelman syndrome, identified as the point mutation of the UBE3A gene, which cannot be seen with other modalities. Elsevier 2021-12-08 /pmc/articles/PMC8683671/ /pubmed/34976390 http://dx.doi.org/10.1016/j.amsu.2021.103170 Text en © 2021 The Authors. Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Triono, Agung
Iskandar, Kristy
Nugrahanto, Andika Priamas
Hadiyanto, Marissa Leviani
Gunadi
Herini, Elisabeth Siti
The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report
title The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report
title_full The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report
title_fullStr The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report
title_full_unstemmed The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report
title_short The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report
title_sort role of whole exome sequencing in the ube3a point mutation of angelman syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683671/
https://www.ncbi.nlm.nih.gov/pubmed/34976390
http://dx.doi.org/10.1016/j.amsu.2021.103170
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