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.

中文翻译：

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整个外显子组测序突出显示了约旦家庭中与圆锥角膜相关的变异。

圆锥角膜（KC）通常是双侧非炎性进行性角膜扩张，其中角膜逐渐变薄且呈圆锥形，从而导致近视，不规则散光和角膜瘢痕形成。对八个以近亲结婚和/或多个圆锥角体个体为特征的家庭进行了基因检查。整个外显子组测序按每个家庭三重或四重进行。基于纯合子变体的次要等位基因频率（MAF）小于0.01，而杂合子变体的MAF等于0，过滤程序的输出为22个错义变体。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体。在基因MYOF和STX2的一个家族中突出显示了两个变体，在基因的其他三个家族中的一个突出显示了一个变体：COL6A5，ZNF676和ZNF765。这项研究是非常罕见的研究之一，该研究突出了与KC相关的遗传变异。