Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
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. To identify disease-causing variants, we performed exome sequencing in 24 South Florida families with ASD. We iden...
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doaj-65f359cbe931406ba3a40069503f26272020-11-25T03:15:26ZengMDPI AGGenes2073-44252020-03-0111435010.3390/genes11040350genes11040350Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South FloridaSaradadevi Thanikachalam0Elizabeth Hodapp1Ta C. Chang2Dayna Morel Swols3Filiz B. Cengiz4Shengru Guo5Mohammad F. Zafeer6Serhat Seyhan7Guney Bademci8William K. Scott9Alana Grajewski10Mustafa Tekin11John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USABascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL 33136, USABascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL 33136, USADepartment of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USAJohn P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USAJohn P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USAJohn P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USAJohn P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USAJohn P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USAJohn P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USABascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL 33136, USAJohn P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USAAnterior 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. To identify disease-causing variants, we performed exome sequencing in 24 South Florida families with ASD. 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. Likely causative variants were detected in 1 out of 7 black and 9 out of 17 white families. In conclusion, exome sequencing for ASD allows us to identify a wide spectrum of rare DNA variants in South Florida. Further studies will explore missing variants, especially in the black communities.https://www.mdpi.com/2073-4425/11/4/350anterior segment dysgenesisprimary congenital glaucomaexome sequencing |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Saradadevi Thanikachalam Elizabeth Hodapp Ta C. Chang Dayna Morel Swols Filiz B. Cengiz Shengru Guo Mohammad F. Zafeer Serhat Seyhan Guney Bademci William K. Scott Alana Grajewski Mustafa Tekin |
spellingShingle |
Saradadevi Thanikachalam Elizabeth Hodapp Ta C. Chang Dayna Morel Swols Filiz B. Cengiz Shengru Guo Mohammad F. Zafeer Serhat Seyhan Guney Bademci William K. Scott Alana Grajewski Mustafa Tekin Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida Genes anterior segment dysgenesis primary congenital glaucoma exome sequencing |
author_facet |
Saradadevi Thanikachalam Elizabeth Hodapp Ta C. Chang Dayna Morel Swols Filiz B. Cengiz Shengru Guo Mohammad F. Zafeer Serhat Seyhan Guney Bademci William K. Scott Alana Grajewski Mustafa Tekin |
author_sort |
Saradadevi Thanikachalam |
title |
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida |
title_short |
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida |
title_full |
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida |
title_fullStr |
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida |
title_full_unstemmed |
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida |
title_sort |
spectrum of genetic variants associated with anterior segment dysgenesis in south florida |
publisher |
MDPI AG |
series |
Genes |
issn |
2073-4425 |
publishDate |
2020-03-01 |
description |
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. To identify disease-causing variants, we performed exome sequencing in 24 South Florida families with ASD. 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. Likely causative variants were detected in 1 out of 7 black and 9 out of 17 white families. In conclusion, exome sequencing for ASD allows us to identify a wide spectrum of rare DNA variants in South Florida. Further studies will explore missing variants, especially in the black communities. |
topic |
anterior segment dysgenesis primary congenital glaucoma exome sequencing |
url |
https://www.mdpi.com/2073-4425/11/4/350 |
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