High-resolution Analysis of DNA Copy Number Alterations in Patients with Isolated Sporadic Keratoconus

Overview

Journal Mol Vis

Specialties Cell Biology
Molecular Biology
Ophthalmology

Date 2011 Apr 30

PMID 21528002

Citations 7

Authors

Khaled K Abu-Amero

Ali M Hellani

Sameer M Al Mansouri

Hatem Kalantan

Abdulrahman M Al-Muammar

Affiliations

Soon will be listed here.

Abstract

Purpose: To determine whether patients with sporadic, non-familial keratoconus and no pathogenic mutations in the visual system homeobox 1 (VSX1) gene have evidence of chromosomal copy number alterations.

Methods: Twenty Saudi Arabian patients with isolated keratoconus, no family history of the disease and no mutations in VSX1 were recruited. Additionally, 10 ethnically-matched healthy controls were also recruited for this study. We screened patients for chromosomal copy number aberrations using the Agilent Human Genome CGH 244A Oligo Microarray Chip.

Results: None of the keratoconus patients screened had evidence of chromosomal copy number alterations when compared to normal ethnically matched controls.

Conclusions: Chromosomal deletions and/or duplications were not detected in any of the patients tested here. Other chromosomal imbalances such as translocations, inversions, and some ploidies cannot be detected by current array CGH technology and other nuclear genetic or epigenetic factors cannot be excluded as a possible contributing factor to keratoconus pathogenesis.

Citing Articles

Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.

Loukovitis E, Sfakianakis K, Syrmakesi P, Tsotridou E, Orfanidou M, Bakaloudi D Ophthalmol Ther. 2018; 7(2):263-292.

PMID: 30191404 PMC: 6258591. DOI: 10.1007/s40123-018-0144-8.

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Lucas S, Zhou T, Blackburn N, Mills R, Ellis J, Leo P PLoS One. 2018; 13(6):e0199178.

PMID: 29924831 PMC: 6010250. DOI: 10.1371/journal.pone.0199178.

Genetics of keratoconus: where do we stand?.

Abu-Amero K, Al-Muammar A, Kondkar A J Ophthalmol. 2014; 2014:641708.

PMID: 25254113 PMC: 4164130. DOI: 10.1155/2014/641708.

Keratoconus is associated with increased copy number of mitochondrial DNA.

Abu-Amero K, Kondkar A, Azad T, Sultan T, Kalantan H, Al-Muammar A Mol Vis. 2014; 20:1203-8.

PMID: 25221426 PMC: 4153421.

The Genetics of Keratoconus: A Review.

Wheeler J, Hauser M, Afshari N, Allingham R, Liu Y Reprod Syst Sex Disord. 2013; (Suppl 6).

PMID: 23795306 PMC: 3686480. DOI: 10.4172/2161-038X.S6-001.

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