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. Author manuscript; available in PMC: 2023 Feb 1.
Published in final edited form as: Hum Mutat. 2021 Dec 28;43(2):240–252. doi: 10.1002/humu.24320

Figure 1A. Family pedigrees with juvenile-onset open-angle glaucoma (JOAG) and EFEMP1 mutation status.

Figure 1A.

Arrow indicates the proband. Solid symbols indicate subjects diagnosed with JOAG, half-filled symbols indicate subjects who carry the EFEMP1 variant but who had no clinical signs of glaucoma at the time of recruitment, and open symbols with genotype status refer to subjects with no glaucoma and no EFEMP1 variant, open symbols without genotype status refer to subjects with no glaucoma (by history/clinical examination) but for whom DNA was unavailable. Genotypes are heterozygous mutant (m/+) and wild type (+/+). Figure 1B. Schematic diagram of EFEMP1 and evolutionary conservation. EFEMP1 Genbank transcript NM_001039348.3 and color-coded exons corresponding to the protein domain. The novel variants p.Asn80Tyr, p.Arg477Cys, and p.Ter494Glnext*29 are located at highly evolutionarily conserved domains.