Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies
Abstract
Dear Editor, Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degeneration that features degeneration of rod and cone photoreceptors [1]. The CFAP410 gene (previously known as C21orf2) encodes a ciliary protein that plays a role in cilia formation and/or maintenance and DNA damage repair [2]. Pathogenic variants in CFAP410 have been recently reported in a Japanese patient with autosomal recessive RP and skeletal anomalies [2]. Herein, we report the first case of CFAP410 (p.Tyr107His and p.Val111Met) compound heterozygous pathogenic variants in a Korean patient with RP and skeletal defects identified by whole-exome sequencing (WES). This study was approved by the institutional review board at Samsung Medical Center (2014-09-052), and written informed consent was obtained from the patient’s parents. A 15-year-old female visited the retina clinic complaining of decreased visual acuity. Her best-corrected visual acuity in the right eye was 20 / 100 and left eye 20 / 70, and the refractive error (spherical equivalent) for the right eye and left eye was +1.5 and -2.5 diopters, respectively. On orthoptic evaluation, there was an alternating esotropia with small dissociated vertical deviation in both the eyes. There was horizontal, low-amplitude, and high-frequency jerk nystagmus. Although she had no family history of visual impairment, genetic testing conducted later revealed an autosomal recessive inheritance pattern. She had a short stature (1%) in…
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