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Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis

Authors
An, Joon-YongJung, Jae HoChoi, LeejeeWieben, Eric D.Mohney, Brian G.
Issue Date
1월-2021
Publisher
MDPI
Keywords
strabismus genetics; exome sequencing; strabismus genes; familial strabismus; strabismus genomic analyses
Citation
GENES, v.12, no.1, pp.1 - 9
Indexed
SCIE
SCOPUS
Journal Title
GENES
Volume
12
Number
1
Start Page
1
End Page
9
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/50612
DOI
10.3390/genes12010075
ISSN
2073-4425
Abstract
Purpose: To investigate candidate genes associated with familial strabismus and propose a theory of their interaction in familial strabismus associated with early neurodevelopment. Methods: Eighteen families, including 53 patients diagnosed with strabismus and 34 unaffected family members, were analyzed. All patients with strabismus and available unaffected family members were evaluated using whole exome sequencing. The primary outcome was to identify rare occurring variants among affected individuals and investigate the evidence of their genetic heterogeneity. These results were compared with exome sequencing analysis to build a comprehensive genetic profile of the study families. Results: We observed 60 variants from 58 genes in 53 patients diagnosed with strabismus. We prioritized the most credible risk variants, which showed clear segregation in family members affected by strabismus. As a result, we found risk variants in four genes (FAT3, KCNH2, CELSR1, and TTYH1) in five families, suggesting their role in development of familial strabismus. In other families, there were several rare genetic variants in affected cases, but we did not find clear segregation pattern across family members. Conclusion: Genomic sequencing holds great promise in elucidating the genetic causes of strabismus; further research with larger cohorts or other related approaches are warranted.
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