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Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa

17 Nov 2018

Abstract excerpt

SIGNIFICANCE: Retinitis pigmentosa (RP) is a severe hereditary retinal disorder characterized by progressive degeneration of rod and cone photoreceptors. This study identified a novel frameshift mutation, c.385delC, p.(L129WfsTer148), in the cyclic nucleotide-gated channel beta 1 (CNGB1) gene of a consanguineous Han Chinese family with autosomal recessive RP (arRP). This expands the spectrum of CNGB1 gene...

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PMID: 30451805
DOI: 10.1097/opx.0000000000001305

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