Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy.

Abstract excerpt

BACKGROUND: Leber congenital amaurosis (LCA) is one of the earliest-onset and most severe forms of inherited retinal disease, and Bardet-Biedl syndrome (BBS) is a rare non-motile primary ciliopathy with a diverse multi-organ phenotype. To our knowledge, we present the first reported genetically confirmed case of LCA10 co-occurring with isolated postaxial polydactyly type A1 harboring CEP290 and GLI3 mutations,...

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