Intrafamilial variability of XYLT2-related spondyloocular syndrome
Intrafamilial variability of XYLT2-related spondyloocular syndrome
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DOI：
10.1016/j.ejmg.2018.11.019
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发表时间：
2019-11-01
影响因子：
1.9
通讯作者：
Alikasifoglu, Mehmet
中科院分区：
文献类型：
--
作者：
Guleray, Naz;Kiper, Pelin Ozlem Simsek;Alikasifoglu, Mehmet
脊椎眼综合征的特征是全身性骨质疏松、多发性骨折和严重的眼部表现。致病性XYLT 2突变最近已被确定与使用全外显子组测序。我们报告两个兄弟姐妹与椎眼综合征谁提出了不同的临床严重程度。一个新的XYLT 2错义突变被检测到在整个物种进化保守的区域。本报告沿着先前的报告表明，即使在同一家族中，表达能力也可能不同。这两个具有新突变的兄弟姐妹进一步扩展了椎眼综合征的临床和突变谱。
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.