Explore chapters and articles related to this topic
Refractive Errors, Myopia, and Presbyopia
Published in Ching-Yu Cheng, Tien Yin Wong, Ophthalmic Epidemiology, 2022
Ka Wai Kam, Chi Pui Pang, Jason C. S. Yam
In 2011, a meta-GWAS consisting mainly of Asian populations discovered PDGFRA (platelet-derived growth factor receptor alpha) on chromosome 4q12 as a susceptibility locus for corneal astigmatism.137 This was later replicated and confirmed by the Consortium for Refractive Error and Myopia (CREAM). In addition, three candidate genes – CLDN7 (chromosome 11), ACP2 (chromosome 17), and TNFAIP8L3 (chromosome 15) – were identified through gene-based analysis.138 The UK Biobank conducted the largest GWAS on astigmatism to date, involving more than 150,000 white middle-aged British adults.139 Four novel genome-wide significant loci were identified (ZC3H11B on chromosome 1q41, NPLOC4 on chromosome 17q25.3, LINC00340 on chromosome 6p22.3, and HERC2 on chromosome 15q13.1) for corneal astigmatism; all except ZC3H11B were also novel loci for refractive astigmatism. Notably, all loci except HERC2 had an association with myopic ocular traits.139
Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes
Published in Current Eye Research, 2020
Erin A. Boese, Mallory R. Tollefson, Michael J. Schnieders, Benjamin W. Darbro, Wallace L.M. Alward, John H. Fingert
Patient III-1 was evaluated by a cardiology/genetics specialist to search for a possible genetic cause of his hypertrophic cardiomyopathy. A commercial test for mutations in a panel of 50 known cardiomyopathy genes (Invitae, San Francisco, CA) identified a heterozygous deletion on chromosome 11p11.2 which spanned the entirety of the myosin-binding protein C, cardiac (MYBPC3. OMIM #600958) gene, known to be associated with hypertrophic cardiomyopathy.21,22 The specific breakpoints of this deletion were subsequently shown to encompass a 1.7 Mbp segment of chromosome 11 (46,842,700–48,588,943 bp) using a comparative genome hybridization (CGH) assay (GeneDx, Gaithersburg, MD). In addition to spanning the MYBPC3 gene, this heterozygous deletion also encompasses an additional 31 genes including 6 genes (LRP4 OMIM #604270; DDB2 OMIM #600811; ACP2 OMIM #171650; SLC39A13 OMIM #608735; RAPSN OMIM #601592; and NDUFS3 OMIM #603846) that have been previously linked with a range of autosomal recessive human diseases (OMIM 614305, 616304, 212780, 178740, 200950, 612350, 208150, 616326, 256000, and 252010) that are not consistent with the patient’s phenotype. Patient II-4 was also tested with the CGH assay and she does not carry the chromosome 11p11.2 deletion.