Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.

ABSTRACT: BACKGROUND:Mutations in CRYAA, which encodes the ?-crystallin protein, are associated with a spectrum of congenital cataract-microcornea syndromes. RESULTS:In this study, we performed clinical examination and subsequent genetic analysis in two unrelated sporadic cases of different geographical origins presenting with a complex phenotype of ocular malformation. Both cases manifested bilateral microphthalmia and severe anterior segment dysgenesis, primarily characterized by congenital aphakia, microcornea, and iris hypoplasia/aniridia. NGS-based analysis revealed two novel single nucleotide variants occurring de novo and affecting the translation termination codon of the CRYAA gene, c.520T?>?C and c.521A?>?C. Both variants are predicted to elongate the C-terminal protein domain by one-third of the original length. CONCLUSIONS:Our report not only expands the mutational spectrum of CRYAA but also identifies the genetic cause of the unusual ocular phenotype described in this report.

SUBMITTER: Marakhonov AV 

PROVIDER: S-EPMC7427288 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature