Abstract
We report a patient harboring a novel homozygous mutation of c.604T>G (p.F202V) in POMT2. He showed delayed psychomotor development but acquired the ability to walk at the age of 3 years and 10 months. His brain MRI was normal. No ocular abnormalities were seen. Biopsied skeletal muscle revealed markedly decreased but still detectable glycosylated forms of alpha-dystroglycan (alpha-DG). Our results indicate that mutations in POMT2 can cause a wide spectrum of clinical phenotypes as observed in other genes associated with alpha-dystroglycanopathy. Presence of small amounts of partly glycosylated alpha-DG may have a role in reducing the clinical symptoms of alpha-dystroglycanopathy.
Publication types
-
Case Reports
-
Research Support, N.I.H., Extramural
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Biopsy
-
Brain / growth & development*
-
Brain / pathology
-
Brain / physiopathology
-
Child, Preschool
-
DNA Mutational Analysis
-
Developmental Disabilities / genetics*
-
Developmental Disabilities / physiopathology
-
Dystroglycans / deficiency
-
Genetic Markers
-
Genetic Predisposition to Disease / genetics
-
Glycosylation
-
Humans
-
Magnetic Resonance Imaging
-
Male
-
Mannosyltransferases / genetics*
-
Muscle, Skeletal / metabolism
-
Muscle, Skeletal / pathology
-
Muscle, Skeletal / physiopathology
-
Muscular Dystrophies / complications*
-
Muscular Dystrophies / genetics*
-
Muscular Dystrophies / metabolism
-
Muscular Dystrophies, Limb-Girdle / complications
-
Muscular Dystrophies, Limb-Girdle / genetics
-
Muscular Dystrophies, Limb-Girdle / metabolism
-
Mutation / genetics*
-
Phenotype
Substances
-
Genetic Markers
-
Dystroglycans
-
Mannosyltransferases
-
protein O-mannosyltransferase