Two novel mutations in XYLT2 cause spondyloocular syndrome

Am J Med Genet A. 2017 Dec;173(12):3195-3200. doi: 10.1002/ajmg.a.38470. Epub 2017 Sep 8.

Abstract

We report on two new patients with spondyloocular syndrome. Both patients harbor novel homozygous mutations in the XYLT2 gene. The patients present severe generalized osteoporosis, multiple fractures, short stature, cataract, and mild hearing impairment. XYLT2 mutations have been identified in spondyloocular syndrome, however only five mutations have been reported previously. These two patients with novel mutations extend the phenotypic and genotypic spectrum of spondyloocular syndrome.

Keywords: XYLT2; cataract; osteochondrodysplasia; osteoporosis; spondyloocular syndrome.

Publication types

  • Case Reports

MeSH terms

  • Cataract / diagnostic imaging
  • Cataract / genetics*
  • Child
  • Craniofacial Abnormalities / diagnostic imaging
  • Craniofacial Abnormalities / genetics*
  • Eye Diseases, Hereditary / diagnostic imaging
  • Eye Diseases, Hereditary / genetics*
  • Female
  • Genotype
  • Homozygote
  • Humans
  • Mutation
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Pentosyltransferases / genetics*
  • Phenotype
  • Retinal Detachment / diagnostic imaging
  • Retinal Detachment / genetics*
  • UDP Xylose-Protein Xylosyltransferase

Substances

  • Pentosyltransferases

Supplementary concepts

  • Spondyloocular Syndrome, Autosomal Recessive