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Ruifang Sui, Xuan Zou, Fangtian Dong; Novel de novo mutations in CRX gene associated with Leber congenital amaurosis in Chinese patients. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1310. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
To analyze the cone-rod homeobox gene (CRX) mutations in a cohort of Chinese patients with Leber congenital amaurosis (LCA) and to describe clinical features of patients with CRX mutations.
Genomic DNA was isolated with standard methods for genetic diagnosis. All three exons of CRX were amplified with PCR and screened for mutation with direct DNA sequencing. 100 unrelated healthy Chinese subjects were screened to exclude nonpathogenic polymorphisms. Retinal phenotypes were characterized by ophthalmic examination, including optical coherence tomography (OCT) and standardized electrophysiological tests.
110 unrelated LCA patients were selected for mutation screening in the CRX gene. Two novel de novo CRX mutations, c.421delT (p.Ser141Pro fsX46) and c.571delT (p.Tyr191Met fsX3), were found related to 2 index patients. Affected daughter of patient two also carriers the mutation. Their visual acuity were ranged from hand motion to light perception. Pigmentary retinopathy in the peripheral retina and macular atrophy were observed. OCT tests showed macular atrophy without normal lamination structure.
Two novel de novo mutations in CRX were found in Chinese patients with LCA. The CRX mutation might create a dominantly inherited trait.
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