title: Further Delineation of the ALG9-CDG Phenotype.
abstract: ALG9-CDG is one of the less frequently reported types of CDG. Here, we summarize the features of six patients with ALG9-CDG reported in the literature and report the features of four additional patients. The patients presented with drug-resistant infantile epilepsy, hypotonia, dysmorphic features, failure to thrive, global developmental disability, and skeletal dysplasia. One patient presented with nonimmune hydrops fetalis. A brain MRI revealed global atrophy with delayed myelination. Exome sequencing identified a novel homozygous mutation c.1075G>A, p.E359K of the ALG9 gene. The results of our analysis of these patients expand the knowledge of ALG9-CDG phenotype.
authors.affiliation: Divisions of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors.forename: Sarah
authors.initials: S
authors.lastname: AlSubhi
authors.affiliation: Division of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors.forename: Amal
authors.initials: A
authors.lastname: AlHashem
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Anas
authors.initials: A
authors.lastname: AlAzami
authors.affiliation: Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors.forename: Kalthoum
authors.initials: K
authors.lastname: Tlili
authors.affiliation: Divisions of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors.forename: Saad
authors.initials: S
authors.lastname: AlShahwan
authors.affiliation: Department of Neurology, Translational Metabolic Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Dirk
authors.initials: D
authors.lastname: Lefeber
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.|Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
authors.affiliation: Divisions of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. btabarki@hotmail.com.
authors.forename: Brahim
authors.initials: B
authors.lastname: Tabarki
keywords: ALG9-CDG; Congenital disorders of glycosylation; Epilepsy; Hydrops fetalis; Skeletal dysplasia; Whole exome sequencing