July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
A novel missense mutation, G2284E, in the Zinc Finger Protein Gene, ZNF469, contribute to the Pathogenesis of Korean Keratoconus patients
Author Affiliations & Notes
  • Jeewon Mok
    Catholic Institutes of Visual Science, Catholic Univ Korea, Seoul, Korea (the Democratic People's Republic of)
  • Jae Young Lee
    Catholic Institutes of Visual Science, Catholic Univ Korea, Seoul, Korea (the Democratic People's Republic of)
  • Choun-Ki Joo
    Catholic Institutes of Visual Science, Catholic Univ Korea, Seoul, Korea (the Democratic People's Republic of)
  • Footnotes
    Commercial Relationships   Jeewon Mok, None; Jae Young Lee, None; Choun-Ki Joo, None
  • Footnotes
    Support  This research was supported by Basic Science Research Program through the National Research Foundation of Korea(NRF) funded by the Ministry of Education (2016R1A6A1A03010528)
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 2921. doi:https://doi.org/
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      Jeewon Mok, Jae Young Lee, Choun-Ki Joo; A novel missense mutation, G2284E, in the Zinc Finger Protein Gene, ZNF469, contribute to the Pathogenesis of Korean Keratoconus patients. Invest. Ophthalmol. Vis. Sci. 2018;59(9):2921. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To investigate whether the Zinc Finger Protein gene (ZNF469) is a candidate gene in the pathogenesis of keratoconus in Korean, we performed sequencing screening of ZNF469 gene in Keratoconus patients

Methods : One hundred fifty patients with sporadic Keratoconus, which visited the Eye Center of Seoul St. Mary’s Hospital and 100 control individuals were enrolled into this study. To screen genetic variations in ZNF469, we investigated using polymerase chain reaction and direct sequencing. The Sorting Intolerant Form Tolerant (SIFT) program was used to predict the effect of amino acid substitution on the ZNF469 protein

Results : In this study, we detected 16 non-synonymous variations and 8 synonymous variations. Among them, 5 non-synonymous variations, G1279S, E1591K, E2149K, G2284E, P2427S, and three synonymous variations, G1131G, S1614S, A1621A were observed only keratoconus patients. Particularly, two novel mutations in ZNF469, G2284E and P2427S were detected in 20.8% and 1.7% of keratoconus patients and were predicted as damaging mutations by computational methods using SIFT. Fourteen SNPs were observed both populations, among them, the C allele of the G2358R was associated with increased occurrence of keratoconus, while the C allele of the T1859T and the A allele of the E630Q was correlated with a decreased occurrence of keratoconus.

Conclusions : This is the first report of genetic variation screening of ZNF469 in Korean Keratoconus patients and our results suggested that non-synonymous variations in ZNF469, particularly G2284E, has a pathogenic role in Korean patients with Keratoconus

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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