Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families
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RESEARCH ARTICLE
Open Access
Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families Tawfiq Froukh1* , Ammar Hawwari2 and Khalid Al Zubi3
Abstract 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. Keywords: NGS, Genome, Ocular, Epithelial, Dry-eye
Background Keratoconus (KC) is sometimes bilateral, noninflammatory progressive corneal ectasia during which the cornea becomes progressively thin and conical, leading to myopia, irregular astigmatism, and corneal scarring. Patients with KC have cone shaped cornea (hence the name keratoconus, derived from the Greek word for cornea (‘kerato’) and cone shaped (‘conus’). It usually arises in the teenage years and progresses, eventually it stabilizes in the 3rd/4th decades [1]. The clinical phenotypes of KC are highly variable; however, the common feature is corneal steepening which is normally detected at an early stage of the disease using computer-assisted corneal tomography. The current treatment of keratoconus * Correspondence: [email protected] 1 Department of Biotechnology and Genetic Engineering, Philadelphia University, Jerash Road, Amman 11118, Jordan Full list of author information is available at the end of the article
is cross linking using riboflavin (vitamin B2) and ultraviolet light, which could prevent (stop) the progression of KC. In mild cases of KC, the refractive errors are usually treated by glasses or contact lenses but in more advanced cases, surgery is required in order to restore optimal visual acuity [2]. While the prevalence of KC in Jordan is unknown it is known that the severity of KC is related to the consanguineous marriages. For example the prevalence (per 100,000) of KC is high in societies with high consanguinity such as India (2300) [3], Iran (2500) [4], Lebanon (3330) [5], and Jerusalem (2340) [6] and low in societies with low consanguinity such as UK/Caucasian (57) [7], Denmark (86) [8], Finland (30) [1], Japan (17.3) [9], and USA (54.5) [10]. In Jordan consanguineous marriage ranges between 25.5% in the capital Amman to 52.1% in Irbid (www.consang.net),
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