Author:

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, congenital disorders of glycosylation, fetal hypokinesia, DPAGT1 gene, GLYCOSYLATION TYPE IJ, CONGENITAL DISORDERS, MENTAL-RETARDATION, DEFICIENCY, DISEASE, CDG, NOMENCLATURE, MUTATIONS, Female, Humans, Infant, Newborn, Isoelectric Focusing, Male, Mutation, N-Acetylglucosaminyltransferases, Phenotype, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences

Abstract:

Congenital disorders of glycosylation (CDG) are due to either defects in the synthesis of the glycan moiety of glycoproteins or glycolipids and in the attachment of the glycans to proteins and lipids. Some 50 CDG have been identified. They represent a challenge for clinicians because most are multisystem diseases with a heterogeneous spectrum of clinical manifestations with involvement of any organ and system. We report on a patient with a mutation in the glycosyltransferase encoded by the DPAGT1 gene, an infrequent CDG. He showed severe fetal hypokinesia phenotype with decreased fetal movements and polyhydramnios. At birth he showed decreased facial expression, without nasolabial folds, soft long ears, U-shaped vermilion of the upper lip, thick skin, hypertrichosis, camptodactyly, moderate multiple contractures, hypotonia and severe hypokinesia, no spontaneous movements, and very limited movements with stimuli; he died at 1½ months. Isoelectrofocusing of serum transferrin showed a type 1 pattern with increased asialo- and disialotransferrin. The study of the DPAGT1 gene showed he was a compound heterozygote for two novel point missense mutations [c.901C > T] + [c.1094T > G]. This phenotype expands the clinical features of the few DPATG1-CDG patients reported. © 2012 Wiley Periodicals, Inc.