Alsubhi Sarah, Alhashem Amal, Faqeih Eissa, Alfadhel Majid, Alfaifi Abdullah, Altuwaijri Waleed, Alsahli Saud, Aldhalaan Hesham, Alkuraya Fowzan S, Hundallah Khalid, Mahmoud Adel, Alasmari Ali, Mutairi Fuad Al, Abduraouf Hanem, AlRasheed Layan, Alshahwan Saad, Tabarki Brahim
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Division of Genetics, Department of Pediatrics; Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Am J Med Genet A. 2017 Oct;173(10):2614-2621. doi: 10.1002/ajmg.a.38358. Epub 2017 Jul 25.
We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were classified into different subtypes: ALG9-CDG (8 patients, 29.5%), ALG3-CDG (7 patients, 26%), COG6-CDG (7 patients, 26%), MGAT2-CDG (3 patients, 11%), SLC35A2-CDG (1 patient), and PMM2-CDG (1 patient). All the patients had homozygous gene mutations. The combined carrier frequency of CDG for the encountered founder mutations in the Saudi population is 11.5 per 10,000, which translates to a minimum disease burden of 14 patients per 1,000,000. Our study provides comprehensive epidemiologic information and prevalence figures for each of these CDG in a large cohort of congenital disorder of glycosylation patients.
我们对患有先天性糖基化障碍（CDG）的沙特患者进行了回顾性研究。确定了来自13个无亲缘关系家庭的27名沙特患者（14名男性，13名女性）。基于分子研究，这27名CDG患者被分为不同亚型：ALG9 - CDG（8例，29.5%）、ALG3 - CDG（7例，26%）、COG6 - CDG（7例，26%）、MGAT2 - CDG（3例，11%）、SLC35A2 - CDG（1例）和PMM2 - CDG（1例）。所有患者均有纯合基因突变。沙特人群中所遇到的常见突变导致的CDG合并携带频率为每10000人中有11.5人，这意味着每1000000人中至少有14名患者患病。我们的研究为这一大型先天性糖基化障碍患者队列中的每种CDG提供了全面的流行病学信息和患病率数据。
