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A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant
Craniofacial dysmorphism, cardiac abnormalities, ectodermal abnormalities, psychomotor delay, intellectual disability, and short stature are all hallmarks of the extremely rare disorder known as cardiofaciocutaneous syndrome (CFCS). Although CFCS is considered rare, approximately 300 cases have been...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Dove
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10497045/ https://www.ncbi.nlm.nih.gov/pubmed/37705935 http://dx.doi.org/10.2147/PGPM.S411964 |
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author | Tang, Qiong Gong, Dai Ye, Xiao-Min Xu, Jun-Ru Yang, Yi-Can Yan, Li-Juan Zou, Li Wen, Xiang-Lan |
author_facet | Tang, Qiong Gong, Dai Ye, Xiao-Min Xu, Jun-Ru Yang, Yi-Can Yan, Li-Juan Zou, Li Wen, Xiang-Lan |
author_sort | Tang, Qiong |
collection | PubMed |
description | Craniofacial dysmorphism, cardiac abnormalities, ectodermal abnormalities, psychomotor delay, intellectual disability, and short stature are all hallmarks of the extremely rare disorder known as cardiofaciocutaneous syndrome (CFCS). Although CFCS is considered rare, approximately 300 cases have been documented in the literature. In this report, we discuss a patient diagnosed with CFCS without the typical heart malformations but with craniofacial features, skin abnormalities, intellectual disability, and short stature. Genetic testing revealed the presence of three potentially harmful variants: one in the MAP2K1 gene and two in the ATP2B3 and CDC42BPB genes, the significance of which is currently not yet found. Our findings in this case report suggest that the clinical symptoms of CFCS may be atypical, thereby expanding our understanding of the symptom spectrum of the disease. Simultaneously, the link between the clinical symptoms of the patient and the two unknown pathogenic variants has not been established. This case report supplements existing clinical reference material by providing valuable insights into the specific scenario. |
format | Online Article Text |
id | pubmed-10497045 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-104970452023-09-13 A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant Tang, Qiong Gong, Dai Ye, Xiao-Min Xu, Jun-Ru Yang, Yi-Can Yan, Li-Juan Zou, Li Wen, Xiang-Lan Pharmgenomics Pers Med Case Report Craniofacial dysmorphism, cardiac abnormalities, ectodermal abnormalities, psychomotor delay, intellectual disability, and short stature are all hallmarks of the extremely rare disorder known as cardiofaciocutaneous syndrome (CFCS). Although CFCS is considered rare, approximately 300 cases have been documented in the literature. In this report, we discuss a patient diagnosed with CFCS without the typical heart malformations but with craniofacial features, skin abnormalities, intellectual disability, and short stature. Genetic testing revealed the presence of three potentially harmful variants: one in the MAP2K1 gene and two in the ATP2B3 and CDC42BPB genes, the significance of which is currently not yet found. Our findings in this case report suggest that the clinical symptoms of CFCS may be atypical, thereby expanding our understanding of the symptom spectrum of the disease. Simultaneously, the link between the clinical symptoms of the patient and the two unknown pathogenic variants has not been established. This case report supplements existing clinical reference material by providing valuable insights into the specific scenario. Dove 2023-09-08 /pmc/articles/PMC10497045/ /pubmed/37705935 http://dx.doi.org/10.2147/PGPM.S411964 Text en © 2023 Tang et al. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Case Report Tang, Qiong Gong, Dai Ye, Xiao-Min Xu, Jun-Ru Yang, Yi-Can Yan, Li-Juan Zou, Li Wen, Xiang-Lan A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant |
title | A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant |
title_full | A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant |
title_fullStr | A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant |
title_full_unstemmed | A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant |
title_short | A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant |
title_sort | case report of cardiofaciocutaneous syndrome with map2k1 pathogenic variant |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10497045/ https://www.ncbi.nlm.nih.gov/pubmed/37705935 http://dx.doi.org/10.2147/PGPM.S411964 |
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