A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family

• Main Authors: Kausar, Mehran, Chew, Elaine Guo Yan, Ullah, Hazrat, Anees, Mariam, Khor, Chiea Chuen, Foo, Jia Nee, Makitie, Outi, Siddiqi, Saima
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2019
• Subjects: Spondyloocular Syndrome (SOS); Whole-Exome-Sequencing (WES); DRNTU::Science::Medicine
• Online Access: https://hdl.handle.net/10356/104716; http://hdl.handle.net/10220/48628
• Institution: Nanyang Technological University

We report on three new patients with spondyloocular syndrome (SOS) in a consanguineous Pakistani family. All three patients present progressive generalized osteoporosis, short stature, recurrent fractures, hearing loss and visual impairments. WES revealed a novel homozygous frameshift variant in exo...