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Research
Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
Mustafa Tekin
University of Miami School of Medicine
Corresponding Author
ORCiD: https://orcid.org/0000-0002-3525-7960
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This work is licensed under a CC BY 4.0 License. Read Full License
Background
Anterior segment dysgenesis (ASD) comprises a wide spectrum of developmental conditions affecting the cornea, iris, and lens, which may be associated with abnormalities of other organs. Mutations in over 20 genes have been shown to cause ASD. To identify disease-causing variants, we performed exome sequencing in 24 South Florida families with ASD.
Results
We identified 12 likely causative variants in 10 families (42%), including single nucleotide or small insertion-deletion variants in B3GLCT, BMP4, CYP1B1, FOXC1, FOXE3, GJA1, PXDN, and TP63, and a large copy number variant involving PAX6 . Four variants were novel. Each variant was detected only in one family.
Conclusions
Presence of rare variants in multiple genes leading to ASD explains its genetic basis in over 40% of patients from South Florida. Exome sequencing for ASD allows us to identify causative variants, thus improving our ability to explain the underlying etiology in more families and to assist them with genetic counseling.
Keywords
Anterior segment dysgenesis, primary congenital glaucoma, exome sequencing
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This is a preprint. It has not completed peer review.
Research
Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
Mustafa Tekin
University of Miami School of Medicine
Corresponding Author
ORCiD: https://orcid.org/0000-0002-3525-7960
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 16 Jan, 2020
No community comments so far
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background
Anterior segment dysgenesis (ASD) comprises a wide spectrum of developmental conditions affecting the cornea, iris, and lens, which may be associated with abnormalities of other organs. Mutations in over 20 genes have been shown to cause ASD. To identify disease-causing variants, we performed exome sequencing in 24 South Florida families with ASD.
Results
We identified 12 likely causative variants in 10 families (42%), including single nucleotide or small insertion-deletion variants in B3GLCT, BMP4, CYP1B1, FOXC1, FOXE3, GJA1, PXDN, and TP63, and a large copy number variant involving PAX6 . Four variants were novel. Each variant was detected only in one family.
Conclusions
Presence of rare variants in multiple genes leading to ASD explains its genetic basis in over 40% of patients from South Florida. Exome sequencing for ASD allows us to identify causative variants, thus improving our ability to explain the underlying etiology in more families and to assist them with genetic counseling.
Figure 1