Two novel mutations in XYLT2 cause spondyloocular syndrome.

Taylan F., Abali Z. Y., Jaentti N., Gunes N., Darendeliler F. F., Bas F., ...More

American journal of medical genetics. Part A, vol.173, no.12, pp.3195-3200, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 173 Issue: 12
  • Publication Date: 2017
  • Doi Number: 10.1002/ajmg.a.38470
  • Journal Name: American journal of medical genetics. Part A
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.3195-3200
  • Keywords: cataract, osteoporosis, osteochondrodysplasia, spondyloocular syndrome, XYLT2, XYLOSYLTRANSFERASE II, GENE, OSTEOPOROSIS
  • Istanbul University Affiliated: Yes

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.