Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.
- Kristen Westenfield,
- Kyriakie Sarafoglou,
- Laura C Speltz,
- Elizabeth I Pierpont,
- Joan Steyermark,
- David Nascene,
- Matthew Bower,
- Mary Ella Pierpont
BMC Med Genet 2018 Jun 15;19(1):100. Epub 2018 Jun 15.
Division of Genetics & Metabolism, Department of Pediatrics and Ophthalmology, 2450 Riverside Avenue, Minneapolis, MN, 55454, USA.
Background: Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or transfer of the lipid-linked oligosaccharide precursor of N-linked glycans. SLC35A2-CDG (previously CDG-IIm) is caused by hemizygous or heterozygous mutations in the X-linked gene SLC35A2 that encodes a UDP-galactose transporter. Read More