Three families with mild PMM2-CDG and normal cognitive development.
Am J Med Genet A
; 173(6): 1620-1624, 2017 Jun.
Article
in En
| MEDLINE
| ID: mdl-28425223
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cerebellum
/
Cognition
/
Phosphotransferases (Phosphomutases)
/
Congenital Disorders of Glycosylation
/
Nervous System Malformations
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2017
Document type:
Article
Affiliation country:
Estonia