Table 3.
Chromosome 6p25 abnormalities and ocular and hearing phenotypes
| 6p25 Variant | Hearing Phenotype | Ocular Phenotype | Reference |
|---|---|---|---|
| .084 Mb deletion | NR | PE, iris atrophy, glaucoma | D’Haene et al, 2011 |
| 0.98 Mb deletion | Hearing loss | ARA, glaucoma | Reis et al, 2012 |
| 1.10 Mb deletion | Hearing loss | ARA, glaucoma | Reis et al, 2012 |
| 1.3 Mb deletion | Hearing loss | ARA | Reis et al, 2012 |
| 1.3 Mb deletion | Hearing Loss | Congenital glaucoma | Siggs et al., 2019 |
| 1.4 Mb deletion | NR | Normal Ophthalmic exam | Ovaert et al., 2017 |
| 1.5 Mb deletion | Normal hearing | Axenfeld-Rieger syndrome, congenital glaucoma | Reis et al, 2012 |
| 1.5 Mb deletion | NR | PE, iris atrophy, glaucoma | Sadagopan et al., 2015 |
| 2.1 Mb deletion | Conductive hearing defect | Anterior segment dysgenesis | Anderlid et al, 2003 |
| 2.1 Mb deletion | Abnormal auditory brainstem response | Congenital glaucoma | Nakane et al., 2013 |
| 2.21 MB deletion | Hearing loss | Myopia | Bedoyan et al, 2011 |
| 2.54 Mb deletion | Hearing Loss | ARA | Vernon et al., 2013 |
| 2.6 Mb deletion | Middle ear malformations and hearing loss | Iris hypoplasia, glaucoma | D’Haene et al, 2011 |
| 2.6 Mb duplication | NR | PE, iris atrophy, glaucoma | Sadagopan et al., 2015 |
| 2.7 Mb deletion | Sensorineural deafness | PE, iris atrophy, glaucoma | Martinez-Glez et al., 2007 |
| 3.4 Mb deletion | Hearing loss | Glaucoma | Weegerink et al, 2016 |
| 3.4 Mb deletion | Hearing loss | Glaucoma | Weegerink et al, 2016 |
| 3.4 Mb deletion | Hearing loss | PE | Weegerink et al, 2016 |
| 3.4 Mb deletion | Middle ear hearing loss | PE, glaucoma | D’Haene et al, 2011 |
| 3.9 Mb deletion | Normal hearing | Strabismus | Cellini et al, 2012 |
| 34 kb deletion | Hearing loss | PE, glaucoma | D’Haene et al, 2011 |
| 4.7 Mb deletion | Hearing loss | ARA | D’Haene et al, 2011 |
| 4.8 Mb deletion | Conductive hearing loss | PE, iris atrophy | Le Caignec et al., 2005 |
| 5.06 Mb deletion and 1 Mb duplication | Hearing loss | Corectopia | Linhares et al, 2015 |
| 5.4 kb deletion | NR | PE | D’Haene et al, 2011 |
| 5.5 Mb deletion | Hearing loss | PE, corneal opacity | Le Caignec et al., 2005 |
| 6 Mb deletion | Normal auditory brainstem response, but no speech | Normal Ophthalmic exam | Piccione et al., 2012 |
| 6.6 Mb deletion | Normal hearing | ARA, glaucoma | Tonoki et al, 2011 |
| 6p25 microdeletion | Sensorineural deafness | ARA | Kapoor et al, 2011 |
| 6p25-6p22 deletion | NR | ARA | Suzuki et al., 2006 |
| 6p25-6pter deletion | Normal hearing | ARA | Maclean et al, 2005 |
| 6p25-6pter deletion | Normal hearing | PE, glaucoma | Tonoki et al, 2011 |
| 6p25-6pter deletion | Normal hearing | Axenfeld-Rieger syndrome, congenital glaucoma | Reis et al, 2012 |
| 6p25-6pter deletion | Hearing loss | ARA, glaucoma | Gould et al, 2004 |
| 6p25-6pter deletion | Normal hearing | ARA | Gould et al, 2004 |
| 6pter deletion | Normal hearing | PE | Lin et al, 2005 |
| 6p25 to 6pter deletion | Hearing loss | ARA | Lin et al, 2005 |
| 6pter microdeletion | Normal hearing | Anterior segment dysgenesis | Guillen-Navarro et al, 1997 |
| Ring chromosome 6, 6 Mb deletion on 6p | Hearing loss | Peter’s anomaly, glaucoma | Zhang et al, 2004 |
| Ring chromosome 6, 1.8 Mb distal 6p deletion | Hearing loss | Ocular features not recorded | Pace et al., 2017 |
| Ring chromosome 6, 6p deletion | Normal auditory brainstem response, but no speech | PE, iris atrophy, glaucoma | Corona-Rivera et al., 2018 |
| Ring chromosome 6, 6p25.2 deletion 1.78 Mb | NR | Anterior segment dysgenesis, microphthalmia | Zhang et al., 2016 |
Abbreviations: ARA, Axenfeld-Rieger anomaly; PE, Posterior embryotoxon; NR, Not reported.