AI Article Synopsis
- DNA samples from 50 patients with optic neuropathy linked to congenital cataract were analyzed to identify key mutations related to hereditary optical conditions.
- Three major mt-DNA mutations were found in some patients, with 32% having primary mutations associated with hereditary Leber optic neuropathy.
- Additionally, rare pathogenic mutations in the OPA1 gene were identified in two patients, while no mutations in the OPA3 gene were detected.
Article Abstract
DNA samples of 50 patients with optic neuropathy (ON) associated with congenital cataract were studied to find 3 major mt-DNA mutations (m.11778G>A, m.3460G>A, m.14484T>C), mutations in "hot" regions of OPA 1 gene (exons 8, 14, 15, 16, 18, 27, 28) and in the entire coding sequence of OPA3 gene for molecular genetic confirmation of diagnosis of hereditary Leber and autosomal dominant ON. Primary mutations of mtDNA responsible for hereditary Leber ON were found in 16 patients (32%). Pathogenic mutations of OPAl gene (c.869G>A and c. 2850delT) were identified in 2 patients (4%), these mutations were not found in the literature. OPA3 gene mutations were not revealed.
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