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Research ArticleOriginal Article
Open Access

Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants

A retrospective study on the western and southern regions of Saudi Arabia

Talal Almaghamsi, Wejdan Ba Attiyah, Mona Bahasan, Badi A. Alotaibi, Shahad F. AlAhmadi, Mehenaz Hanbazazh, Abeer Zakariyah, Rimah A. Saleem, Munaifah K. AlAnezi and Yousef Hawsawi
Saudi Medical Journal October 2023, 44 (10) 987-994; DOI: https://doi.org/10.15537/smj.2023.44.10.20230290
Talal Almaghamsi
From the Department of Pediatrics (Almaghamsi, Ba Attiyah, Bahasan), King Faisal Specialist Hospital and Research Center; from the Department of Pathology (Hanbazazh), Faculty of Medicine, University of Jeddah; from the Department of Medical Genetics (Zakariyah), Faculty of Medicine, University of Jeddah; from the Research Center (AlAnezi, Hawsawi), King Faisal Specialist Hospital and Research, Jeddah; from the Department of Clinical Laboratory Sciences (Alotaibi), College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences; from the Department of Clinical Laboratory Sciences (Alotaibi), King Abdullah International Medical Research Center; from the College of Medicine (Saleem, Hawsawi), Al-Faisal University, Riyadh; from the Pharmacy Department (AlAhmadi), Muhammed Saleh Basharhil Hospital, Makkah, Kingdom of Saudi Arabia.
MD
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Wejdan Ba Attiyah
From the Department of Pediatrics (Almaghamsi, Ba Attiyah, Bahasan), King Faisal Specialist Hospital and Research Center; from the Department of Pathology (Hanbazazh), Faculty of Medicine, University of Jeddah; from the Department of Medical Genetics (Zakariyah), Faculty of Medicine, University of Jeddah; from the Research Center (AlAnezi, Hawsawi), King Faisal Specialist Hospital and Research, Jeddah; from the Department of Clinical Laboratory Sciences (Alotaibi), College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences; from the Department of Clinical Laboratory Sciences (Alotaibi), King Abdullah International Medical Research Center; from the College of Medicine (Saleem, Hawsawi), Al-Faisal University, Riyadh; from the Pharmacy Department (AlAhmadi), Muhammed Saleh Basharhil Hospital, Makkah, Kingdom of Saudi Arabia.
MD
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Mona Bahasan
From the Department of Pediatrics (Almaghamsi, Ba Attiyah, Bahasan), King Faisal Specialist Hospital and Research Center; from the Department of Pathology (Hanbazazh), Faculty of Medicine, University of Jeddah; from the Department of Medical Genetics (Zakariyah), Faculty of Medicine, University of Jeddah; from the Research Center (AlAnezi, Hawsawi), King Faisal Specialist Hospital and Research, Jeddah; from the Department of Clinical Laboratory Sciences (Alotaibi), College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences; from the Department of Clinical Laboratory Sciences (Alotaibi), King Abdullah International Medical Research Center; from the College of Medicine (Saleem, Hawsawi), Al-Faisal University, Riyadh; from the Pharmacy Department (AlAhmadi), Muhammed Saleh Basharhil Hospital, Makkah, Kingdom of Saudi Arabia.
MD
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Badi A. Alotaibi
From the Department of Pediatrics (Almaghamsi, Ba Attiyah, Bahasan), King Faisal Specialist Hospital and Research Center; from the Department of Pathology (Hanbazazh), Faculty of Medicine, University of Jeddah; from the Department of Medical Genetics (Zakariyah), Faculty of Medicine, University of Jeddah; from the Research Center (AlAnezi, Hawsawi), King Faisal Specialist Hospital and Research, Jeddah; from the Department of Clinical Laboratory Sciences (Alotaibi), College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences; from the Department of Clinical Laboratory Sciences (Alotaibi), King Abdullah International Medical Research Center; from the College of Medicine (Saleem, Hawsawi), Al-Faisal University, Riyadh; from the Pharmacy Department (AlAhmadi), Muhammed Saleh Basharhil Hospital, Makkah, Kingdom of Saudi Arabia.
PhD
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Shahad F. AlAhmadi
From the Department of Pediatrics (Almaghamsi, Ba Attiyah, Bahasan), King Faisal Specialist Hospital and Research Center; from the Department of Pathology (Hanbazazh), Faculty of Medicine, University of Jeddah; from the Department of Medical Genetics (Zakariyah), Faculty of Medicine, University of Jeddah; from the Research Center (AlAnezi, Hawsawi), King Faisal Specialist Hospital and Research, Jeddah; from the Department of Clinical Laboratory Sciences (Alotaibi), College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences; from the Department of Clinical Laboratory Sciences (Alotaibi), King Abdullah International Medical Research Center; from the College of Medicine (Saleem, Hawsawi), Al-Faisal University, Riyadh; from the Pharmacy Department (AlAhmadi), Muhammed Saleh Basharhil Hospital, Makkah, Kingdom of Saudi Arabia.
Msc
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Mehenaz Hanbazazh
From the Department of Pediatrics (Almaghamsi, Ba Attiyah, Bahasan), King Faisal Specialist Hospital and Research Center; from the Department of Pathology (Hanbazazh), Faculty of Medicine, University of Jeddah; from the Department of Medical Genetics (Zakariyah), Faculty of Medicine, University of Jeddah; from the Research Center (AlAnezi, Hawsawi), King Faisal Specialist Hospital and Research, Jeddah; from the Department of Clinical Laboratory Sciences (Alotaibi), College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences; from the Department of Clinical Laboratory Sciences (Alotaibi), King Abdullah International Medical Research Center; from the College of Medicine (Saleem, Hawsawi), Al-Faisal University, Riyadh; from the Pharmacy Department (AlAhmadi), Muhammed Saleh Basharhil Hospital, Makkah, Kingdom of Saudi Arabia.
MD
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Abeer Zakariyah
From the Department of Pediatrics (Almaghamsi, Ba Attiyah, Bahasan), King Faisal Specialist Hospital and Research Center; from the Department of Pathology (Hanbazazh), Faculty of Medicine, University of Jeddah; from the Department of Medical Genetics (Zakariyah), Faculty of Medicine, University of Jeddah; from the Research Center (AlAnezi, Hawsawi), King Faisal Specialist Hospital and Research, Jeddah; from the Department of Clinical Laboratory Sciences (Alotaibi), College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences; from the Department of Clinical Laboratory Sciences (Alotaibi), King Abdullah International Medical Research Center; from the College of Medicine (Saleem, Hawsawi), Al-Faisal University, Riyadh; from the Pharmacy Department (AlAhmadi), Muhammed Saleh Basharhil Hospital, Makkah, Kingdom of Saudi Arabia.
MSc, PhD
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Rimah A. Saleem
From the Department of Pediatrics (Almaghamsi, Ba Attiyah, Bahasan), King Faisal Specialist Hospital and Research Center; from the Department of Pathology (Hanbazazh), Faculty of Medicine, University of Jeddah; from the Department of Medical Genetics (Zakariyah), Faculty of Medicine, University of Jeddah; from the Research Center (AlAnezi, Hawsawi), King Faisal Specialist Hospital and Research, Jeddah; from the Department of Clinical Laboratory Sciences (Alotaibi), College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences; from the Department of Clinical Laboratory Sciences (Alotaibi), King Abdullah International Medical Research Center; from the College of Medicine (Saleem, Hawsawi), Al-Faisal University, Riyadh; from the Pharmacy Department (AlAhmadi), Muhammed Saleh Basharhil Hospital, Makkah, Kingdom of Saudi Arabia.
MSc, PhD
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Munaifah K. AlAnezi
From the Department of Pediatrics (Almaghamsi, Ba Attiyah, Bahasan), King Faisal Specialist Hospital and Research Center; from the Department of Pathology (Hanbazazh), Faculty of Medicine, University of Jeddah; from the Department of Medical Genetics (Zakariyah), Faculty of Medicine, University of Jeddah; from the Research Center (AlAnezi, Hawsawi), King Faisal Specialist Hospital and Research, Jeddah; from the Department of Clinical Laboratory Sciences (Alotaibi), College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences; from the Department of Clinical Laboratory Sciences (Alotaibi), King Abdullah International Medical Research Center; from the College of Medicine (Saleem, Hawsawi), Al-Faisal University, Riyadh; from the Pharmacy Department (AlAhmadi), Muhammed Saleh Basharhil Hospital, Makkah, Kingdom of Saudi Arabia.
MSc
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Yousef Hawsawi
From the Department of Pediatrics (Almaghamsi, Ba Attiyah, Bahasan), King Faisal Specialist Hospital and Research Center; from the Department of Pathology (Hanbazazh), Faculty of Medicine, University of Jeddah; from the Department of Medical Genetics (Zakariyah), Faculty of Medicine, University of Jeddah; from the Research Center (AlAnezi, Hawsawi), King Faisal Specialist Hospital and Research, Jeddah; from the Department of Clinical Laboratory Sciences (Alotaibi), College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences; from the Department of Clinical Laboratory Sciences (Alotaibi), King Abdullah International Medical Research Center; from the College of Medicine (Saleem, Hawsawi), Al-Faisal University, Riyadh; from the Pharmacy Department (AlAhmadi), Muhammed Saleh Basharhil Hospital, Makkah, Kingdom of Saudi Arabia.
MSc, PhD
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  • ORCID record for Yousef Hawsawi
  • For correspondence: [email protected]
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Saudi Medical Journal: 44 (10)
Saudi Medical Journal
Vol. 44, Issue 10
1 Oct 2023
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Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants
Talal Almaghamsi, Wejdan Ba Attiyah, Mona Bahasan, Badi A. Alotaibi, Shahad F. AlAhmadi, Mehenaz Hanbazazh, Abeer Zakariyah, Rimah A. Saleem, Munaifah K. AlAnezi, Yousef Hawsawi
Saudi Medical Journal Oct 2023, 44 (10) 987-994; DOI: 10.15537/smj.2023.44.10.20230290

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Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants
Talal Almaghamsi, Wejdan Ba Attiyah, Mona Bahasan, Badi A. Alotaibi, Shahad F. AlAhmadi, Mehenaz Hanbazazh, Abeer Zakariyah, Rimah A. Saleem, Munaifah K. AlAnezi, Yousef Hawsawi
Saudi Medical Journal Oct 2023, 44 (10) 987-994; DOI: 10.15537/smj.2023.44.10.20230290
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Keywords

  • cystic fibrosis
  • CFTR
  • gene variants

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