Intrafamilial variability of XYLT2-related spondyloocular syndrome |
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Authors: | Naz Guleray Pelin Ozlem Simsek Kiper Gulen Eda Utine Koray Boduroglu Mehmet Alikasifoglu |
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Affiliation: | 1. Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey;2. Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey |
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Abstract: | Spondyloocular syndrome is characterized by generalized osteoporosis, multiple fractures and severe ocular findings. The causative XYLT2 mutations have recently been identified with the use of whole exome sequencing. We report on two siblings with spondyloocular syndrome who presented with varying clinical severity. A novel XYLT2 missense mutation was detected in a region evolutionary conserved across the species. This report along with the previous reports demonstrates that variable expressivity may be possible even within the same family. These two siblings with a novel mutation further expand the clinical and mutational spectrum of spondyloocular syndrome. |
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Keywords: | Corresponding author. Spondyloocular syndrome Cataract Retinal detachment Osteoporosis |
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