Abstract
BackgroundAniridia is a congenital, panocular disease that can affect the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function variants are the most common cause of aniridia, and variants throughout the gene have been linked to a range of ophthalmic abnormalities. Furthermore, particular variants at a given site in PAX6 lead to distinct phenotypes. This study aimed to characterize genetic variants associated with congenital aniridia in a Chinese family.MethodsThe proband and family underwent ophthalmologic examinations. DNA was sampled from the peripheral blood of all 6 individuals, and whole-exome sequencing was performed. Sanger sequencing was used to verify the variant in this family members.ResultsA novel variant (c.114_119delinsAATTTCC: p.Pro39llefsTer17) in the PAX6 gene was identified in subjects II-1, III-1 and III-2, who exhibited complete aniridia and cataracts. The proband and the proband’s brother also had glaucoma, high myopia, and foveal hypoplasia.ConclusionsWe identified that a novel PAX6 frameshift heterozygous deletion variant is the predominant cause of aniridia in this Chinese family.Trial registrationWe did not perform any health-related interventions for the participants.
Highlights
Aniridia is a congenital, panocular disease that can affect the cornea, anterior chamber angle, iris, lens, retina and optic nerve
We describe a novel PAX6 variant associated with congenital aniridia in a Chinese family
Subjects and Clinical evaluation Thorough ophthalmologic examinations were performed for the proband and her brother, including tests of visual acuity, intraocular pressure (IOP), slit-lamp analyses, anterior segment photography, visual field tests (Humphrey 750,Carl Zeiss, Germany), funduscopy, ultrasonic B analyses (Chiescan Quantel Medical, France), gonioscopic analyses, Optical coherence tomography angiography (OCTA) assessments (RTVue-XR Avanti, v2017.1.0; OptoVue, Inc., CA, USA), and ultrasound biomicroscope (UBM) assessments (SW China)
Summary
Panocular disease that can affect the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function variants are the most common cause of aniridia, and variants throughout the gene have been linked to a range of ophthalmic abnormalities. This study aimed to characterize genetic variants associated with congenital aniridia in a Chinese family. Aniridia is an eye disorder defined as partial or complete absence of the iris that can be congenital or caused by injury. Over 500 variants in the PAX6 gene and its regulatory regions have been characterized to date. Many of these variants account for PAX6 haploinsufficiency, which leads to significant ocular and systemic abnormalities [5]. We describe a novel PAX6 variant associated with congenital aniridia in a Chinese family
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