Journal article
Mutations in EFEMP1 in patients with juvenile open-angle glaucoma (JOAG)
Ophthalmology. Glaucoma, Vol.6(6), pp.668-670
11/2023
DOI: 10.1016/j.ogla.2023.05.006
PMID: 37224920
Abstract
Determine the role of the EFEMP1 gene in the pathogenesis of juvenile open-angle glaucoma (JOAG).
Prospective case-control
72 JOAG and 215 POAG patients and 362 controls from Iowa.
DNA was tested for coding sequence mutations in the EFEMP1gene using Sanger or whole exome sequencing.
No non-synonymous EFEMP1 mutations were detected in JOAG patients and one non-synonymous EFEMP1variant (c.146A>C, p.Asp49Ala) was detected in both POAG patients (n= 2, 1.5%) and controls (n=4, 1.1%) at similar frequencies (p = 0.67).
EFEMP1 mutations are not a common cause of glaucoma in our cohort from Iowa.
Details
- Title: Subtitle
- Mutations in EFEMP1 in patients with juvenile open-angle glaucoma (JOAG)
- Creators
- Aminatta Z. Tejan-Kamara - University of IowaErin A. Boese - University of IowaAndrew Pouw - University of IowaNathan C. Sears - University of IowaBen R. Roos - University of IowaEdwin M. Stone - University of IowaTodd, E. Scheetz - University of IowaJohn H. Fingert - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Ophthalmology. Glaucoma, Vol.6(6), pp.668-670
- Publisher
- Elsevier Inc
- DOI
- 10.1016/j.ogla.2023.05.006
- PMID
- 37224920
- ISSN
- 2589-4196
- eISSN
- 2589-4196
- Language
- English
- Electronic publication date
- 05/22/2023
- Date published
- 11/2023
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; John and Marcia Carver Nonprofit Genetic Testing Laboratory; Ophthalmology and Visual Sciences
- Record Identifier
- 9984419457802771
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