Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.

Abstract excerpt

Purpose: Oculodentodigital dysplasia (ODDD) is a group disorder caused by GJA1 variants, of which glaucoma leading to blindness is a frequent complication of the ocular phenotype. In this study, the correlation of the GJA1 genotype with the ocular phenotype was analyzed systematically. Methods: GJA1 variants were collected from in-house whole-exome sequencing data of 5,307 individuals. Potentially pathogenic...

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• Connexin 43
• Craniofacial Abnormalities
• Eye Abnormalities
• Foot Deformities, Congenital
• Glaucoma