Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida

Thanikachalam S., Hodapp E., Chang T. C. , Swols D. M. , Cengiz F. B. , Guo S., ...More

GENES, vol.11, no.4, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.3390/genes11040350
  • Journal Name: GENES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, Directory of Open Access Journals
  • Keywords: anterior segment dysgenesis, primary congenital glaucoma, exome sequencing, JOINT-CONSENSUS-RECOMMENDATION, MUTATIONS, GLAUCOMA, PHENOTYPE, MALFORMATION, GUIDELINES, GENOMICS, COHORT, FOXC1
  • Gazi University Affiliated: No


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.