Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement

Abstract

To the Editor: The mutation in DPM3, encoding dolichol-phosphate-mannose (DPM) synthase subunit 3, causes congenital disorders of glycosylation (CDG) type Io, also known as muscular dystrophydystroglycanopathy (limb-girdle) type C15 (MIM 612937). To date, only three mutations of DPM3 have been reported in five patients with muscular dystrophy, but without central nervous system (CNS) involvement. Herein, we describe a Chinese patient with hyperCKemia, developmental delay, epilepsy, and brain abnormality associated with novel mutations in DPM3. The patient, now an 8-year-old girl, was born to healthy parents after an uneventful pregnancy. Her motor development milestones were delayed. She was able to stand independently at 30 months, and walk at 3 years of age. At 2 years of age, markedly elevated creatine kinase (CK) was observed without any obvious muscle symptoms. Her CK levels ranged from 500 to 2000 U/L (normal <200 U/L). At 6 years