Academic Journal
Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity.
| Τίτλος: | Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity. |
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| Συγγραφείς: | Alhazmi AS; From the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia., Alhareeri AA; From the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia., Alhawas AS; From the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia., Jameel EW; From the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia., Aleisa FS; From the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia., Alqahtani MM; From the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia., Almughni MJ; From the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia., Almuqbil MA; From the College of Science and Health Professions (Alhazmi), College of Applied Medical Sciences (Alhareeri), from the College of Medicine (Alhawas, Jameel, Aleisa, Alqahtani, Almughni, Almuqbil), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (KAIMRC) (Alhazmi, Alhareeri, Almuqbil), King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Kingdom of Saudia Arabia. |
| Πηγή: | Neurosciences (Riyadh, Saudi Arabia) [Neurosciences (Riyadh)] 2025 Oct; Vol. 30 (4), pp. 304-311. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Armed Forces Hospital Country of Publication: Saudi Arabia NLM ID: 101252453 Publication Model: Print Cited Medium: Internet ISSN: 1319-6138 (Print) Linking ISSN: 13196138 NLM ISO Abbreviation: Neurosciences (Riyadh) Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Riyadh : Armed Forces Hospital |
| Ιατρικοί όροι (MeSH): | Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/epidemiology , Consanguinity* , Genetic Profile*, Saudi Arabia/epidemiology ; Humans ; Retrospective Studies ; Male ; Female ; Adult ; Middle Aged ; Adolescent ; Child ; Genetic Testing ; Mutation ; Young Adult |
| Περίληψη: | Objectives: To identify the genetic landscape of CMT in Saudi Arabia. Methods: This retrospective cohort study included 43 patients diagnosed with CMT between 2016 and 2022 at National Guard Health Affairs hospitals in three cities. All CMT cases with a genetic diagnosis were included. Results: Genetic testing was conducted in 23 out of 43 CMT cases (53%), and clinically relevant genetic variants associated with CMT were identified in 17 of 23 patients (73.9%). The most common genes in the cohort were MTMR2, PMP22, and FGD4, with notable intra-tribe mutations suggesting a strong influence of consanguinity. The predominant mode of inheritance was autosomal recessive CMT1, affecting 12 out of 17 cases (70.6%). Five novel variants associated with CMT were identified in MTMR2, PRX, SBF1, and HSPB8. Conclusion: This study reveals a distinct genetic profile of CMT in the Saudi population, with a higher prevalence of autosomal recessive forms of the disease compared to other populations. The findings highlight the importance of incorporating genetic testing into routine clinical practice, particularly in populations with high consanguinity rates. (Copyright: © Neurosciences.) |
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| Entry Date(s): | Date Created: 20251125 Date Completed: 20251125 Latest Revision: 20251206 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC12676911 |
| DOI: | 10.17712/nsj.2021.4.20250058 |
| PMID: | 41290347 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1319-6138 |
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| DOI: | 10.17712/nsj.2021.4.20250058 |