Congenital disorders of glycosylation: The Saudi experience

Am J Med Genet A. 2017 Oct;173(10):2614-2621. doi: 10.1002/ajmg.a.38358. Epub 2017 Jul 25.

Abstract

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.

Keywords: ALG9; CDG; Congenital disorder(s) of glycosylation; severe phenotype; skeletal dysplasia.

MeSH terms

  • Adaptor Proteins, Vesicular Transport / genetics
  • Adolescent
  • Biomarkers, Tumor / genetics*
  • Child
  • Child, Preschool
  • 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
  • Phenotype
  • Retrospective Studies
  • Saudi Arabia / epidemiology

Substances

  • Adaptor Proteins, Vesicular Transport
  • Biomarkers, Tumor
  • COG6 protein, human
  • Membrane Proteins
  • Monosaccharide Transport Proteins
  • UDP-galactose translocator
  • Mixed Function Oxygenases
  • 4-coumaroyl-D-glucose hydroxylase
  • ALG3 protein, human
  • ALG9 protein, human
  • Mannosyltransferases
  • N-Acetylglucosaminyltransferases
  • alpha-1,6-mannosyl-glycoprotein beta-1,2-N-acetylglucosaminyltransferase