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Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report
BACKGROUND: Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Here, a Chinese boy with a novel nonsense mutati...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10656980/ https://www.ncbi.nlm.nih.gov/pubmed/37980465 http://dx.doi.org/10.1186/s12887-023-04408-0 |
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author | Zhang, Hua-yong Xiao, Min Zhang, Yong |
author_facet | Zhang, Hua-yong Xiao, Min Zhang, Yong |
author_sort | Zhang, Hua-yong |
collection | PubMed |
description | BACKGROUND: Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Here, a Chinese boy with a novel nonsense mutation in the ELN gene is reported. CASE PRESENTATION: We report a 1-year-old boy who presented with exercise intolerance, weight growth restriction with age, a 1-year history of heart murmur, and inguinal hernia. Gene sequencing revealed a novel nonsense mutation in the ELN gene (c.757 C > T (p.Gln253Ter), NM_000501.4). Due to severe branch pulmonary artery stenosis, the reconstruction of the branch pulmonary artery with autologous pericardium was performed. The inguinal hernia repair was performed 3 months postoperatively. After six months of outpatient follow-up, the child recovered well, gained weight with age, and had no special clinical symptoms. CONCLUSION: We identified a de novo nonsense mutation in the ELN gene leading to mild SVAS and severe branch pulmonary artery stenosis. A new phenotype of inguinal hernia was also needed to be considered for possible association with the ELN gene. Still, further confirmation will be necessary. |
format | Online Article Text |
id | pubmed-10656980 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-106569802023-11-18 Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report Zhang, Hua-yong Xiao, Min Zhang, Yong BMC Pediatr Case Report BACKGROUND: Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Here, a Chinese boy with a novel nonsense mutation in the ELN gene is reported. CASE PRESENTATION: We report a 1-year-old boy who presented with exercise intolerance, weight growth restriction with age, a 1-year history of heart murmur, and inguinal hernia. Gene sequencing revealed a novel nonsense mutation in the ELN gene (c.757 C > T (p.Gln253Ter), NM_000501.4). Due to severe branch pulmonary artery stenosis, the reconstruction of the branch pulmonary artery with autologous pericardium was performed. The inguinal hernia repair was performed 3 months postoperatively. After six months of outpatient follow-up, the child recovered well, gained weight with age, and had no special clinical symptoms. CONCLUSION: We identified a de novo nonsense mutation in the ELN gene leading to mild SVAS and severe branch pulmonary artery stenosis. A new phenotype of inguinal hernia was also needed to be considered for possible association with the ELN gene. Still, further confirmation will be necessary. BioMed Central 2023-11-18 /pmc/articles/PMC10656980/ /pubmed/37980465 http://dx.doi.org/10.1186/s12887-023-04408-0 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Zhang, Hua-yong Xiao, Min Zhang, Yong Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report |
title | Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report |
title_full | Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report |
title_fullStr | Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report |
title_full_unstemmed | Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report |
title_short | Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report |
title_sort | novel mutation in eln gene causes cardiac abnormalities and inguinal hernia: case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10656980/ https://www.ncbi.nlm.nih.gov/pubmed/37980465 http://dx.doi.org/10.1186/s12887-023-04408-0 |
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