Author:
Jedlickova J.,Vajter M.,Barta T.,Black G.,Mares J.,Fichtl M.,Kousal B.,Dudakova L.,Liskova P.
Abstract
ABSTRACTFour members of a three-generation family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T inMIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change inMIR204. The chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, family members were shown to be affected by albinism resulting from biallelic pathogenicOCA2variants.
Publisher
Cold Spring Harbor Laboratory