A Heterozygous Variant of TGFB3 in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case Report
Loeys–Dietz syndrome (LDS) 5 is characterized by aortic aneurysms, hypertelorism, and cleft palate/bifid uvula. We describe a woman with a transforming growth factor beta3 (TGFβ3) mutation who displays a forme fruste phenotype of LDS5. A 43-year-old woman with joint pain and hypermobile joints under...
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American College of Physicians
2023-11-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2023.0035 |
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| author | Tarika D. Patel Meagan N. McNicholas Christina M. Laukaitis |
| author_facet | Tarika D. Patel Meagan N. McNicholas Christina M. Laukaitis |
| author_sort | Tarika D. Patel |
| collection | DOAJ |
| description | Loeys–Dietz syndrome (LDS) 5 is characterized by aortic aneurysms, hypertelorism, and cleft palate/bifid uvula. We describe a woman with a transforming growth factor beta3 (TGFβ3) mutation who displays a forme fruste phenotype of LDS5. A 43-year-old woman with joint pain and hypermobile joints underwent evaluation for hypermobile Ehlers–Danlos syndrome. Her features included pes planus, treated high-arched palate, and increased joint mobility. Genetic analysis identified a pathogenic TGFβ3 variant (c.427A>T, p.Arg143*), clarifying the diagnosis of LDS5. Comparing our patient with others with TGFB3 mutations illustrated the diversity of LDS5 features, often a milder forme fruste form, which warrants more investigation due to insufficient characterization. |
| format | Article |
| id | doaj-art-a0e442f83bc9425ea5aa30c59f7e81ae |
| institution | OA Journals |
| issn | 2767-7664 |
| language | English |
| publishDate | 2023-11-01 |
| publisher | American College of Physicians |
| record_format | Article |
| series | Annals of Internal Medicine: Clinical Cases |
| spelling | doaj-art-a0e442f83bc9425ea5aa30c59f7e81ae2025-08-20T02:27:22ZengAmerican College of PhysiciansAnnals of Internal Medicine: Clinical Cases2767-76642023-11-0121110.7326/aimcc.2023.0035A Heterozygous Variant of TGFB3 in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case ReportTarika D. Patel0Meagan N. McNicholas1Christina M. Laukaitis21Carle Illinois College of Medicine, University of Illinois Urbana-Champaign, Urbana, Illinois1Carle Illinois College of Medicine, University of Illinois Urbana-Champaign, Urbana, Illinois1Carle Illinois College of Medicine, University of Illinois Urbana-Champaign, Urbana, IllinoisLoeys–Dietz syndrome (LDS) 5 is characterized by aortic aneurysms, hypertelorism, and cleft palate/bifid uvula. We describe a woman with a transforming growth factor beta3 (TGFβ3) mutation who displays a forme fruste phenotype of LDS5. A 43-year-old woman with joint pain and hypermobile joints underwent evaluation for hypermobile Ehlers–Danlos syndrome. Her features included pes planus, treated high-arched palate, and increased joint mobility. Genetic analysis identified a pathogenic TGFβ3 variant (c.427A>T, p.Arg143*), clarifying the diagnosis of LDS5. Comparing our patient with others with TGFB3 mutations illustrated the diversity of LDS5 features, often a milder forme fruste form, which warrants more investigation due to insufficient characterization.https://www.acpjournals.org/doi/10.7326/aimcc.2023.0035 |
| spellingShingle | Tarika D. Patel Meagan N. McNicholas Christina M. Laukaitis A Heterozygous Variant of TGFB3 in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case Report Annals of Internal Medicine: Clinical Cases |
| title | A Heterozygous Variant of TGFB3 in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case Report |
| title_full | A Heterozygous Variant of TGFB3 in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case Report |
| title_fullStr | A Heterozygous Variant of TGFB3 in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case Report |
| title_full_unstemmed | A Heterozygous Variant of TGFB3 in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case Report |
| title_short | A Heterozygous Variant of TGFB3 in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case Report |
| title_sort | heterozygous variant of tgfb3 in a patient with an atypical presentation of loeys dietz syndrome a case report |
| url | https://www.acpjournals.org/doi/10.7326/aimcc.2023.0035 |
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