Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation
<b>Background</b>/<b>Objectives</b>: Arterial Tortuosity Syndrome (ATS) is a rare, autosomal recessive connective tissue disorder characterized by arterial twists, abnormal bulges, constriction, and tears. Patients have distinctive features and disease manifestations. The syn...
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2025-01-01
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| author | Muhammed Riyas K. Rahmath Haytham Ibrahim Muhammad Faiyaz-Ul-Haque Zafar Nawaz Ahmad Zitoun Ahmed Hussein Ahmed Sadek Ayman El-Menyar Reema Kamal Hassan Al-Thani Gulab Sher |
| author_facet | Muhammed Riyas K. Rahmath Haytham Ibrahim Muhammad Faiyaz-Ul-Haque Zafar Nawaz Ahmad Zitoun Ahmed Hussein Ahmed Sadek Ayman El-Menyar Reema Kamal Hassan Al-Thani Gulab Sher |
| author_sort | Muhammed Riyas K. Rahmath |
| collection | DOAJ |
| description | <b>Background</b>/<b>Objectives</b>: Arterial Tortuosity Syndrome (ATS) is a rare, autosomal recessive connective tissue disorder characterized by arterial twists, abnormal bulges, constriction, and tears. Patients have distinctive features and disease manifestations. The syndrome’s full clinical spectrum and course remain incompletely understood. <b>Methods</b>: We sought to review the medical records of Qatari patients who had ATS. The cohort study included 21 patients who were genetically confirmed by mutations in the SLC2A10 gene. <b>Results</b>: The study revealed that the NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) mutation in SLC2A10 leads to mild outcomes of no mortality and less morbidity. Novel features such as a flat philtrum, bulbous noses, bilateral nasolacrimal duct obstruction, allergic conjunctivitis, latent nystagmus, café au lait spots, eczema, dermatitis, allergic reactions, bilateral temporomandibular joint cysts, bilateral syndactyly (toes), parapelvic cysts, kidney malrotation, vesicoureteral reflux, and nephrolithiasis were identified in our cohort. Furthermore, rare features previously documented in a limited number of patients, including leg length discrepancy, epilepsy, and migraine headaches, were also observed in our cohort. <b>Conclusions</b>: Our data contributes new insights into the life course of ATS in Qatari patients. These findings underscore the importance of effective education strategies through repeated counseling aimed at preventing cousin marriage and the syndrome within the cohort. |
| format | Article |
| id | doaj-art-aeae6c5bd12f4baba85a208692e3fb4c |
| institution | Kabale University |
| issn | 2227-9059 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | MDPI AG |
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| series | Biomedicines |
| spelling | doaj-art-aeae6c5bd12f4baba85a208692e3fb4c2025-01-24T13:24:13ZengMDPI AGBiomedicines2227-90592025-01-0113115910.3390/biomedicines13010159Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 MutationMuhammed Riyas K. Rahmath0Haytham Ibrahim1Muhammad Faiyaz-Ul-Haque2Zafar Nawaz3Ahmad Zitoun4Ahmed Hussein5Ahmed Sadek6Ayman El-Menyar7Reema Kamal8Hassan Al-Thani9Gulab Sher10Pediatric Cardiology, Hamad General Hospital, Hamad Medical Corporation, Doha 3050, QatarPediatric Cardiology, Sidra Medicine, Doha 26999, QatarDepartment of Pathology and Laboratory Medicine, Hamad Medical Corporation, Doha 3050, QatarDepartment of Pathology and Laboratory Medicine, Hamad Medical Corporation, Doha 3050, QatarDepartment of Surgery, Hamad Medical Corporation & Weill Cornell Medicine, Doha 3050, QatarDepartment of Surgery, Hamad Medical Corporation & Weill Cornell Medicine, Doha 3050, QatarDepartment of Surgery, Hamad Medical Corporation & Weill Cornell Medicine, Doha 3050, QatarDepartment of Surgery, Hamad Medical Corporation & Weill Cornell Medicine, Doha 3050, QatarPediatric Cardiology, Hamad General Hospital, Hamad Medical Corporation, Doha 3050, QatarDepartment of Surgery, Hamad Medical Corporation & Weill Cornell Medicine, Doha 3050, QatarTranslational Research Institute, Academic Health System, Hamad Medical Corporation, Doha 3050, Qatar<b>Background</b>/<b>Objectives</b>: Arterial Tortuosity Syndrome (ATS) is a rare, autosomal recessive connective tissue disorder characterized by arterial twists, abnormal bulges, constriction, and tears. Patients have distinctive features and disease manifestations. The syndrome’s full clinical spectrum and course remain incompletely understood. <b>Methods</b>: We sought to review the medical records of Qatari patients who had ATS. The cohort study included 21 patients who were genetically confirmed by mutations in the SLC2A10 gene. <b>Results</b>: The study revealed that the NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) mutation in SLC2A10 leads to mild outcomes of no mortality and less morbidity. Novel features such as a flat philtrum, bulbous noses, bilateral nasolacrimal duct obstruction, allergic conjunctivitis, latent nystagmus, café au lait spots, eczema, dermatitis, allergic reactions, bilateral temporomandibular joint cysts, bilateral syndactyly (toes), parapelvic cysts, kidney malrotation, vesicoureteral reflux, and nephrolithiasis were identified in our cohort. Furthermore, rare features previously documented in a limited number of patients, including leg length discrepancy, epilepsy, and migraine headaches, were also observed in our cohort. <b>Conclusions</b>: Our data contributes new insights into the life course of ATS in Qatari patients. These findings underscore the importance of effective education strategies through repeated counseling aimed at preventing cousin marriage and the syndrome within the cohort.https://www.mdpi.com/2227-9059/13/1/159arterial tortuosity syndromeSLC2A10Qatarifounder mutationmild outcome |
| spellingShingle | Muhammed Riyas K. Rahmath Haytham Ibrahim Muhammad Faiyaz-Ul-Haque Zafar Nawaz Ahmad Zitoun Ahmed Hussein Ahmed Sadek Ayman El-Menyar Reema Kamal Hassan Al-Thani Gulab Sher Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation Biomedicines arterial tortuosity syndrome SLC2A10 Qatari founder mutation mild outcome |
| title | Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation |
| title_full | Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation |
| title_fullStr | Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation |
| title_full_unstemmed | Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation |
| title_short | Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation |
| title_sort | understanding the spectrum of mild clinical outcomes and novel findings in arterial tortuosity syndrome among qatari patients implications of slc2a10 mutation |
| topic | arterial tortuosity syndrome SLC2A10 Qatari founder mutation mild outcome |
| url | https://www.mdpi.com/2227-9059/13/1/159 |
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