A Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome

• Published in: Journal of pediatric ophthalmology and strabismus Vol. 61; no. 3; pp. e23 - e27
• Main Authors: Bozkurt, Banu, Güler, Ramazan, Özdemir, Ebru Marzioğlu, Esin, Deniz, Gönül, Şaban
• Format: Journal Article
• Language: English
• Published: Thorofare, NJ SLACK Incorporated 01.05.2024; SLACK INCORPORATED
• Subjects: Arthritis - diagnosis; Arthritis - genetics; Birth defects; Cataracts; Collagen; Collagen Type II - genetics; Connective Tissue Diseases - diagnosis; Connective Tissue Diseases - genetics; DNA - genetics; DNA Mutational Analysis; Exome Sequencing; Female; Genetic counseling; Genomes; Glaucoma; Hearing Loss, Sensorineural - diagnosis; Hearing Loss, Sensorineural - genetics; Humans; Infant; Intraocular Pressure - physiology; Mutation; Myopia; Nose; Pedigree; Retinal detachment; Retinal Detachment - diagnosis; Retinal Detachment - genetics; Turkey; Turkey
• ISSN: 0191-3913; 1938-2405; 1938-2405
• DOI: 10.3928/01913913-20240314-02

A 6-month-old female infant with megalophthalmos was referred with the suspicion of congenital glaucoma. Refractive measurements obtained with handheld autorefractometry were −7.00 −2.00 × 90° in the right eye and −6.00 −2.00 × 100° in the left eye and ultrasonic axial lengths were 22.50 mm in both eyes. Intraocular pressures and vertical and horizontal corneal diameters of the proband were 11 mm Hg, 11 mm, and 11.50 mm in both eyes, respectively. She was diagnosed as having early-onset high myopia. Her father also had degenerative high myopia (−12.00 diopters) in the right eye, bilateral congenital lens opacities, and retinal detachment in the left eye. Her mother was emmetropic with normal eye examination results. Clinical exome sequencing analysis revealed a novel ENST00000380518.3 c.3528_3530 delins GACCATTAGCA (Chr12:48369813: GCA > TGCTAATGGTC) variant in the collagen type II alpha 1 chain (COL2A1) on chromosome 12q13 (OMIM 108300), consistent with the Stickler syndrome type 1. Subsequent segregation analysis revealed paternal inheritance. Although many pathogenic null variants have been described within the COL2A1 gene, there is currently no documented literature pertaining to this specific variant, making this the inaugural report of its manifestation in scientific discourse. [J Pediatr Ophthalmol Strabismus. 2024;61(3):e23–e27.]