Two novel mutations in XYLT2 cause spondyloocular syndrome

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.

Source: American Journal of Medical Genetics Part A - September 8, 2017 Category: Genetics & Stem Cells Authors: Fulya Taylan, Zehra Yava ş Abalı, Nina Jäntti, Nilay Güneş, Feyza Darendeliler, Firdevs Baş, Şükran Poyrazoğlu, Nevbahar Tamçelik, Beyhan Tüysüz, Outi Mäkitie Tags: CLINICAL REPORT Source Type: research