Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

Gene. 2014 Jun 1;542(2):266-8. doi: 10.1016/j.gene.2014.03.053. Epub 2014 Mar 28.

Abstract

We report a neonate who was diagnosed as a case of skeletal dysplasia during pregnancy, and was subsequently diagnosed as a case of MLII alpha/beta on the basis of clinical and radiological findings and molecular testing of the parents. A novel GNPTAB mutation c.1701delC [p.F566LfsX5] was identified in the father. The case reiterates the severe prenatal phenotype of MLII alpha/beta which mimics skeletal dysplasia and illustrates the utility of molecular genetic analysis in confirmation of diagnosis and subsequent genetic counselling.

Keywords: GNPTAB; Molecular characterization; Mucolipidosis type II alpha/beta; Skeletal dysplasia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Diseases, Developmental / diagnosis
  • Female
  • Humans
  • Infant, Newborn
  • Mucolipidoses / diagnosis
  • Mucolipidoses / diagnostic imaging
  • Mucolipidoses / genetics*
  • Mutation*
  • Pregnancy
  • Transferases (Other Substituted Phosphate Groups) / genetics*
  • Ultrasonography, Prenatal

Substances

  • Transferases (Other Substituted Phosphate Groups)
  • GNPTAB protein, human