Abstract
Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2-CDG is the most common subtype among the CDG. The severity of PMM2-CDG is variable. Patients often have a recognizable phenotype with neurological and multisystem symptoms that might cause early death. We report six patients from three families who are diagnosed with a clinically mild PMM2-CDG and have normal cognitive development. All these patients had delayed gross motor skills with mild-to-moderate neurological findings. Cerebellar hypoplasia was detected in all siblings for whom brain MRI was performed. In 5/6 children the Wechsler Intelligence Scale for Children (WISC) showed normal cognitive development with full scale IQ scores ranging from borderline to average. Four patients were diagnosed with PMM2-CDG at the age of 8 years or later as their neurological symptoms were quite mild and they had been able to participate in regular school programs. We report patients with p.Val231Met/p.Arg239Trp and p.Ile120Thr/p.Gly228Cys genotypes which may cause milder variants of PMM2-CDG.
Original language | English (US) |
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Pages (from-to) | 1620-1624 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 173 |
Issue number | 6 |
DOIs | |
State | Published - Jun 2017 |
Keywords
- PMM2-CDG
- cerebellar hypoplasia
- congenital disorders of glycosylation
- mild phenotype
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)