Novel variants identified in a three‑generation family with concomitant exotropia.

ABSTRACT: Concomitant exotropia is a condition where there is a misalignment between both eyes, which is more prevalent in Asians than in Caucasians. It is an eye disease related to the neural development of binocular vision and eye movement control. Studies have indicated that genetic factors contribute to the development of concomitant exotropia; however, the underlying mutations have not been thoroughly investigated to date. In the present study, whole-exome sequencing was performed in a three-generation family with concomitant exotropia. In the proband and the proband's father, bioinformatics analyses identified a duplication of the genomic region spanning genes PCDHA1-7 and a heterozygous mutation c.3775G>A (p.A1259T) of the COL3A1 gene, which is located in the conserved COLFI dom

SUBMITTER: Li J 

PROVIDER: S-EPMC9535333 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature