Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome

Clin Genet. 2017 Jun;91(6):932-933. doi: 10.1111/cge.12902. Epub 2017 Jan 26.

Abstract

A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Carbohydrate Metabolism, Inborn Errors / diagnosis
  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Carbohydrate Metabolism, Inborn Errors / pathology
  • Female
  • Genetic Counseling*
  • Glucose Transporter Type 1 / genetics*
  • Heterozygote
  • Humans
  • Male
  • Monosaccharide Transport Proteins / deficiency*
  • Monosaccharide Transport Proteins / genetics
  • Mosaicism
  • Mutation
  • Pedigree

Substances

  • Glucose Transporter Type 1
  • Monosaccharide Transport Proteins
  • SLC2A1 protein, human

Supplementary concepts

  • Glut1 Deficiency Syndrome