Froukh Tawfiq, Hawwari Ammar, Al Zubi Khalid
Department of Biotechnology and Genetic Engineering, Philadelphia University, Jerash Road, Amman, 11118, Jordan.
Sight and Insight Eye Clinic, Amman, Jordan.
BMC Med Genet. 2020 Sep 4;21(1):177. doi: 10.1186/s12881-020-01112-z.
Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring.
Eight families characterized by consanguineous marriages and/or multiple keratoconic individuals were examined genetically. Whole exome sequencing was done as trio or quadro per family. The output of the filtration procedure, based on minor allele frequency (MAF) less than 0.01 for homozygous variants and MAF equals 0 for heterozygous variants, is 22 missense variants.
Based on the gene/protein function five candidate variants were highlighted in four families. Two variants were highlighted in one family within the genes MYOF and STX2, and one variant is highlighted in each of the other three families within the genes: COL6A5, ZNF676 and ZNF765.
This study is one of the very rare that highlights genetic variants in association with KC.
圆锥角膜（KC）通常是双侧、非炎性进行性角膜扩张，其中角膜逐渐变薄并呈圆锥形，导致近视、不规则散光和角膜瘢痕形成。
对八个以近亲结婚和/或多个圆锥角膜患者为特征的家族进行了基因检测。每个家族以三联体或四联体形式进行全外显子测序。基于纯合变异的次要等位基因频率（MAF）小于0.01以及杂合变异的MAF等于0的过滤程序输出结果为22个错义变异。
基于基因/蛋白质功能，在四个家族中突出显示了五个候选变异。在一个家族的MYOF和STX2基因中突出显示了两个变异，在其他三个家族的COL6A5、ZNF676和ZNF765基因中各突出显示了一个变异。
本研究是极少数突出显示与圆锥角膜相关的基因变异的研究之一。
