Ye X C, Pegado V, Patel M S, Wasserman W W
Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, Vancouver, BC, Canada.
Clin Genet. 2014 Aug;86(2):103-11. doi: 10.1111/cge.12367. Epub 2014 Mar 26.
Eye misalignment, called strabismus, is amongst the most common phenotypes observed, occurring in up to 5% of individuals in a studied population. While misalignment is frequently observed in rare complex syndromes, the majority of strabismus cases are non-syndromic. Over the past decade, genes and pathways associated with syndromic forms of strabismus have emerged, but the genes contributing to non-syndromic strabismus remain elusive. Genetic testing for strabismus risk may allow for earlier diagnosis and treatment, as well as decreased frequency of surgery. We review human and model organism literature describing non-syndromic strabismus, including family, twin, linkage, and gene expression studies. Recent advances in the genetics of Duane retraction syndrome are considered, as relatives of those impacted show elevated familial rates of non-syndromic strabismus. As whole genome sequencing efforts are advancing for the discovery of the elusive strabismus genes, this overview is intended to support the interpretation of the new findings.
眼睛斜视，即斜视，是最常见的表型之一，在所研究的人群中发生率高达5%。虽然斜视在罕见的复杂综合征中经常出现，但大多数斜视病例是非综合征性的。在过去十年中，与综合征性斜视相关的基因和通路已被发现，但导致非综合征性斜视的基因仍然难以捉摸。斜视风险的基因检测可能有助于早期诊断和治疗，并减少手术频率。我们回顾了描述非综合征性斜视的人类和模式生物文献，包括家族、双胞胎、连锁和基因表达研究。由于受杜安退缩综合征影响者的亲属中非综合征性斜视的家族发病率较高，因此我们考虑了该综合征遗传学的最新进展。随着全基因组测序工作的推进以发现难以捉摸的斜视基因，本综述旨在支持对新发现的解读。
