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Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants

TREX1 (three prime repair exonuclease 1) gene encodes DNA 3′ end repair exonuclease that plays an important role in DNA repair. Mutations in TREX1 gene have been identified as the cause of a rare autoimmune neurological disease, Aicardi-Goutières syndrome (AGS). Here, we report an AGS case of a 6-mo...

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Autores principales: Wu, De, Fang, Liwei, Huang, Ting, Ying, Songcheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8113616/
https://www.ncbi.nlm.nih.gov/pubmed/33996686
http://dx.doi.org/10.3389/fped.2021.634281
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author Wu, De
Fang, Liwei
Huang, Ting
Ying, Songcheng
author_facet Wu, De
Fang, Liwei
Huang, Ting
Ying, Songcheng
author_sort Wu, De
collection PubMed
description TREX1 (three prime repair exonuclease 1) gene encodes DNA 3′ end repair exonuclease that plays an important role in DNA repair. Mutations in TREX1 gene have been identified as the cause of a rare autoimmune neurological disease, Aicardi-Goutières syndrome (AGS). Here, we report an AGS case of a 6-month-old Chinese girl with novel TREX1 variants. The patient had mild rashes on the face and legs, increased muscle tensions in the limbs, and positive cervical correction reflex. Cranial magnetic resonance imaging showed that there were patches of slightly longer T1 and T2 signals in the bilateral cerebral hemisphere and brainstem white matter, mainly in the frontotemporal lobe, together with decreased white matter volume, enlarged ventricles, and widened sulcus fissure. Total exon sequencing showed that the TREX1 gene of the child had mutations of c.137_138insC and c.292_293insA, which had not been reported before. In addition, elevated type I interferons were detected by using enzyme-linked immunosorbent assay in the patient's serum. Together, our study demonstrated that novel TREX1 variants (c.137_138insC and c.292_293insA) cause AGS for the first time.
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spelling pubmed-81136162021-05-13 Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants Wu, De Fang, Liwei Huang, Ting Ying, Songcheng Front Pediatr Pediatrics TREX1 (three prime repair exonuclease 1) gene encodes DNA 3′ end repair exonuclease that plays an important role in DNA repair. Mutations in TREX1 gene have been identified as the cause of a rare autoimmune neurological disease, Aicardi-Goutières syndrome (AGS). Here, we report an AGS case of a 6-month-old Chinese girl with novel TREX1 variants. The patient had mild rashes on the face and legs, increased muscle tensions in the limbs, and positive cervical correction reflex. Cranial magnetic resonance imaging showed that there were patches of slightly longer T1 and T2 signals in the bilateral cerebral hemisphere and brainstem white matter, mainly in the frontotemporal lobe, together with decreased white matter volume, enlarged ventricles, and widened sulcus fissure. Total exon sequencing showed that the TREX1 gene of the child had mutations of c.137_138insC and c.292_293insA, which had not been reported before. In addition, elevated type I interferons were detected by using enzyme-linked immunosorbent assay in the patient's serum. Together, our study demonstrated that novel TREX1 variants (c.137_138insC and c.292_293insA) cause AGS for the first time. Frontiers Media S.A. 2021-04-28 /pmc/articles/PMC8113616/ /pubmed/33996686 http://dx.doi.org/10.3389/fped.2021.634281 Text en Copyright © 2021 Wu, Fang, Huang and Ying. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Wu, De
Fang, Liwei
Huang, Ting
Ying, Songcheng
Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants
title Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants
title_full Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants
title_fullStr Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants
title_full_unstemmed Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants
title_short Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants
title_sort case report: aicardi-goutières syndrome caused by novel trex1 variants
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8113616/
https://www.ncbi.nlm.nih.gov/pubmed/33996686
http://dx.doi.org/10.3389/fped.2021.634281
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