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Updated: Dec 10, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families
Tawfiq Froukh1, Ammar Hawwari2, Khalid Al Zubi3
1Department of Biotechnology and Genetic Engineering, Philadelphia University, Jerash Road, Amman, 11118, Jordan. tfroukh@philadelphia.edu.jo.
Background:
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.
Methods:
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.
Results:
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.
Conclusion:
This study is one of the very rare that highlights genetic variants in association with KC.
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