Alshamlani Lamia K, Alsulaim Dana S, Alabbad Raghad S, Alhoshan Ahad A, Alkhoder Joud F, Alsaleh Norah S, Almannai Mohammed, Ababneh Faroug, Algattan Manal, Alsini Lojain, Alswaid Abdulrahman Faiz, Eyaid Wafaa M, Al Mutairi Fuad, Umair Muhammad, Alfadhel Majid
College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children Hospital (KASCH), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Appl Clin Genet. 2024 Oct 3;17:151-158. doi: 10.2147/TACG.S476350. eCollection 2024.
Consanguinity, or the practice of marrying close relatives, is a common cultural tradition in Saudi Arabia, with rates among the highest in the world. This practice has significant implications for the prevalence and distribution of major single genetic defects and chromosomal abnormalities within the Saudi population.
Herein, using the BESTCare electronic medical record system (designed to streamline hospital operations, enhance patient care, and improve the overall efficiency of healthcare services; bestcare.ezcaretech.com) in a single tertiary centre, King Abdullah Specialized Children Hospital (KASCH) in Riyadh, Saudi Arabia, we performed a cross-sectional study for all patients referred to the hospital from the 1st January 2020 until 1st January 2022.
The present study, which included 1100 individuals, found a high prevalence of consanguinity (64%) and a significant proportion of third-degree relatives (69%). The mean age of participants was 12.24 years, and the diagnostic rate using advanced molecular genetics techniques was 45%, with whole exome sequencing (WES) being the most common method (43%). The study also noted a significant delay in diagnosis for more than a year in 16% of cases, with a common neurodevelopmental phenotype (18%).
In conclusion, we revealed the prevalence of consanguineous marriages in the KASCH hospital in Riyadh, Saudi Arabia. We also highlighted the most frequently referred phenotype. These findings are consistent with previous research on the prevalence and impact of consanguinity on rare genetic disorders.
近亲结婚，即与近亲结婚的行为，是沙特阿拉伯一种常见的文化传统，近亲结婚率位居世界前列。这种行为对沙特人群中主要单基因缺陷和染色体异常的患病率及分布有重大影响。
在此，我们利用沙特阿拉伯利雅得阿卜杜拉国王专科医院（KASCH）这一单一三级医疗中心的BESTCare电子病历系统（旨在简化医院运营、提升患者护理水平并提高医疗服务的整体效率；bestcare.ezcaretech.com），对2020年1月1日至2022年1月1日转诊至该医院的所有患者进行了一项横断面研究。
本研究纳入了1100名个体，发现近亲结婚率很高（64%），且有相当比例的三级亲属（69%）。参与者的平均年龄为12.24岁，使用先进分子遗传学技术的诊断率为45%，其中全外显子组测序（WES）是最常用的方法（43%）。该研究还指出，16%的病例诊断延迟超过一年，常见的神经发育表型占18%。
总之，我们揭示了沙特阿拉伯利雅得KASCH医院近亲结婚的患病率。我们还突出了最常转诊的表型。这些发现与先前关于近亲结婚对罕见遗传疾病的患病率及影响的研究一致。
