Elif Demirkilinc Biler1, Orhan Ilim2, Huseyin Onay3, Onder Uretmen2. 1. Department of Ophthalmology, Ege University Faculty of Medicine, Izmir, Turkey. Electronic address: elif.dem@gmail.com. 2. Department of Ophthalmology, Ege University Faculty of Medicine, Izmir, Turkey. 3. Department of Molecular Genetics, Ege University Faculty of Medicine, Izmir, Turkey.
Abstract
PURPOSE: To investigate CHN1 (chimerin 1) gene mutations in patients with isolated nonsyndromic Duane syndrome and accompanying positive familial history, bilaterality, or various systemic disorders. METHODS: Patients with Duane retraction syndrome (DRS) and a positive family history of congenital ocular motility disturbance or bilateral involvement or accompanying any congenital disorder(s) seen consecutively at a single center from 2013 to 2016 were enrolled. All subjects underwent full ophthalmologic examination, including refraction, best-corrected visual acuity, ocular alignment and motility, globe retraction, and biomicroscopic or fundus evaluation. DNA samples were investigated by direct sequencing of the coding regions of the CHN1 gene. RESULTS: A total of 30 patients (15 males) were included (mean age, 11.8 ± 10.4 years; range, 2-45 years): 8 cases presented with bilateral DRS; 22, with unilateral DRS. Family history of ocular motility abnormality was positive in 16 patients. Eleven cases had an additional congenital disorder. In 2 patients, 2 different mutations were detected in the CHN1 gene: p.E313K (c.937G>A) and p.N224S (c.671A>G). CONCLUSIONS: CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities. Additional genetic studies evaluating chimerin 1 (CHN1) and its role in the development of the ocular motor axis are needed to provide new data about these mutations and phenotypic variations.
PURPOSE: To investigate CHN1 (chimerin 1) gene mutations in patients with isolated nonsyndromic Duane syndrome and accompanying positive familial history, bilaterality, or various systemic disorders. METHODS:Patients with Duane retraction syndrome (DRS) and a positive family history of congenital ocular motility disturbance or bilateral involvement or accompanying any congenital disorder(s) seen consecutively at a single center from 2013 to 2016 were enrolled. All subjects underwent full ophthalmologic examination, including refraction, best-corrected visual acuity, ocular alignment and motility, globe retraction, and biomicroscopic or fundus evaluation. DNA samples were investigated by direct sequencing of the coding regions of the CHN1 gene. RESULTS: A total of 30 patients (15 males) were included (mean age, 11.8 ± 10.4 years; range, 2-45 years): 8 cases presented with bilateral DRS; 22, with unilateral DRS. Family history of ocular motility abnormality was positive in 16 patients. Eleven cases had an additional congenital disorder. In 2 patients, 2 different mutations were detected in the CHN1 gene: p.E313K (c.937G>A) and p.N224S (c.671A>G). CONCLUSIONS:CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities. Additional genetic studies evaluating chimerin 1 (CHN1) and its role in the development of the ocular motor axis are needed to provide new data about these mutations and phenotypic variations.