title: Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In).
abstract: Very recently, Haeuptle and colleagues described a new glycosylation defect due to RFT1 deficiency (CDG In). Accumulation of intracellular DolPP-GlcNAc(2)Man(5) with absence of cytosolic GlcNAc(2)Man(5) resembled the profile of a yeast mutant deficient in RFT1, a protein that is thought to have a role as a flippase. This is the first detailed description of the clinical phenotype of this patient. It was a severe disorder affecting intrauterine development and movement, and leading to intrauterine growth retardation. The child was born with several musculoskeletal abnormalities including arthrogryposis. Postnatally, severe reflux and irregular bowl movements contributed to failure to thrive. The patient showed very little development and no vision and suffered from drug-resistant epilepsy. Abnormal coagulation resulted in thrombosis and the patient died at the age of 4 years from a pulmonary embolus.
authors.affiliation: Metabolic Medicine Unit, Great Ormond Street Hospital with UCL Institute of Child Health, Great Ormond Street, London, WC1N 3JH, UK.
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
authors.forename: S
authors.initials: S
authors.lastname: Grunewald
mesh_terms: D001176:Arthrogryposis / Q000209:etiology; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000150:complications / Q000235:genetics* / Q000378:metabolism*; D004827:Epilepsy / Q000209:etiology; D017809:Fatal Outcome; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D011247:Pregnancy
chemical_list: D008562:Membrane Glycoproteins; C486729:RFT1 protein, human