DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype

摘要

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 11/2 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.