Congenital disorders of glycosylation: The Saudi experience

• Published in: American journal of medical genetics. Part A Vol. 173; no. 10; pp. 2614 - 2621
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.10.2017
• Subjects: Adaptor Proteins, Vesicular Transport - genetics; Adolescent; ALG9; Biomarkers, Tumor - genetics; CDG; Child; Child, Preschool; Congenital diseases; Congenital disorder(s) of glycosylation; Congenital Disorders of Glycosylation - epidemiology; Congenital Disorders of Glycosylation - genetics; Female; Glycosylation; Homozygote; Humans; Infant; Male; Mannosyltransferases - genetics; Membrane Proteins - genetics; Mixed Function Oxygenases - genetics; Monosaccharide Transport Proteins - genetics; Mutation; N-Acetylglucosaminyltransferases - genetics; Patients; Phenotype; Retrospective Studies; Saudi Arabia - epidemiology; severe phenotype; skeletal dysplasia; Congenital disorder(s) of glycosylation; ALG9; severe phenotype; skeletal dysplasia; CDG
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.38358

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.