Two novel mutations in XYLT2 cause spondyloocular syndrome.

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

American journal of medical genetics. Part A, cilt.173, sa.12, ss.3195-3200, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 173 Sayı: 12
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1002/ajmg.a.38470
  • Dergi Adı: American journal of medical genetics. Part A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.3195-3200
  • Anahtar Kelimeler: cataract, osteoporosis, osteochondrodysplasia, spondyloocular syndrome, XYLT2, XYLOSYLTRANSFERASE II, GENE, OSTEOPOROSIS
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.