Confirmation of theMIR204n.37C>T heterozygous variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma

• DOI: 10.1101/2023.02.09.23284763
• Publication Date: 2023-02-11T22:25:10Z
• Authors: J. Jedlickova; M. Vajter; T. Barta; G. Black; J. Mares; M. Fichtl; B. Kousal; L. Dudakova; P. Liskova
• Keywords: Coloboma; Dystrophy; Electroretinography

ABSTRACT Four members of a three-generation family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers the n.37C>T in MIR204 . The identification this previously reported pathogenic variant confirms existence distinct clinical entity caused by sequence change was variably associated iris coloboma, congenital glaucoma, and premature cataracts extending phenotypic range condition. In silico analysis revealed 713 novel targets. Additionally, affected albinism resulting from biallelic OCA2 variants.