Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report

BMC Pediatr. 2019 Apr 8;19(1):98. doi: 10.1186/s12887-019-1470-2.


Background: Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Muscle-eye-brain disease (or muscular dystrophy-dystroglycanopathy type 3 A) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly.

Case presentation: We report clinical and genetic characteristics of a 6-year-old boy affected by muscular dystrophy-dystroglycanopathy. He has severe a delay in psychomotor and speech development, muscle hypotony, congenital myopia, partial atrophy of the optic nerve disc, increased level of creatine kinase, primary-muscle lesion, polymicrogyria, ventriculomegaly, hypoplasia of the corpus callosum, cysts of the cerebellum. Exome sequencing revealed compound heterozygous mutations in POMGNT1 gene (transcript NM_001243766.1): c.1539 + 1G > A and c.385C > T.

Conclusions: The present case report shows diagnostic algorithm step by step and helps better understand the clinical and genetic features of congenital muscular dystrophy.

Keywords: Dystrophy-dystroglycanopathy; MEB disease; POMGNT1.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology
  • Child
  • Exome
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • N-Acetylglucosaminyltransferases / genetics*
  • Sequence Analysis, DNA
  • Walker-Warburg Syndrome / genetics*


  • N-Acetylglucosaminyltransferases
  • protein O-mannose beta-1,2-N-acetylglucosaminyltransferase