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Details about other KC related genes screened in this study
To further insure the significance of the identified ZNF469 mutations, we also
screened other genes related to KC in patients who carry the ZNF469 mutations. The
following search strategy was used to screen studies that reported gene mutations
related to KC in the Pubmed database: (keratoconus[Title/Abstract]) AND
((gene[Title/Abstract]) OR mutation[Title/Abstract]).
In all, thirty-one genes related to KC were involved: dedicator of cytokinesis 9
(DOCK9)[1], collagen type V alpha 1 chain (COL5A1), lysyl oxidase(LOX),
calpastatin (CAST), fibronectin type III domain containing 3B (FNDC3B),
transforming growth factor beta induced（TGFBI）, RAB3 GTPase activating protein
catalytic subunit 1(RAB3GAP1), multiple PDZ domain crumbs cell polarity complex
component (MPDZ-NF1B), zinc finger E-box binding homeobox 1 (ZEB1), superoxide
dismutase 1(SOD1), interleukin 1 alpha(IL1A), interleukin 1 beta (IL1B), collagen
type IV alpha 4 chain(COL4A4), visual system homeobox 1(VSX1), microRNA 184
(MIR-184)[2], secreted protein acidic and cysteine rich (SPARC), metallopeptidase
inhibitor 3 (TIMP3)[3], RAD51 recombinase (RAD51)[4], transferring(TF)[5], DNA
ligase 3 (LIG3)[6], flap structure-specific endonuclease 1 (FEN1)[7],solute carrier
family 4 member 11 (SLC4A11), interleukin 1 receptor antagonist (IL1RN)[8], platelet
derived growth factor receptor alpha(PDGFRA), tripartite motif containing
29(TRIM29)[9], DNA polymerase gamma, catalytic subunit (POLG), X-ray repair
cross complementing 1 (XRCC1), nei like DNA glycosylase 1 (NEIL1),
poly(ADP-ribose) polymerase-1(PARP-1) [10], serine/threonine kinase 24(STK24),
transforming growth factor beta-1-like(TGFβ1)[11].
All involved genes were screened by next-generation sequencing technology, and
further identified using Sanger sequencing technology. Only one DOCK9
mutation( c.1940C>T)) was detected, whose SIFT score was 0.
Reference
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