错义突变
突变
外显子组测序
遗传学
外显子组
表现力
生物
医学
基因
作者
Naz Güleray Lafcı,Pelin Özlem Şimşek‐Kiper,Gülen Eda Ütine,Koray Boduroğlu,Mehmet Alikaşifoğlu
标识
DOI:10.1016/j.ejmg.2018.11.019
摘要
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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