Article
A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.
Ophthalmic genetics - 1 Apr 2022
Lähteenoja Laura, Häkli Sanna, Tuupanen Sari, Kuismin Outi, Palosaari Tapani, Rahikkala Elisa, Falck Aura
Abstract excerpt
BACKGROUND: Pathogenic variants in the CEP78 gene can present as atypical Usher syndrome or as retinitis pigmentosa. Here, we present a review of all reported cases of CEP78 variants in the literature to date and present a novel variant of CEP78, c.1261_1262delinsA, in a consanguineous northern Finnish family with two individuals. MATERIALS AND METHODS: Our patients were first discovered in a registry-based...
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