Genetic analysis in a cohort of patients with hereditary optic neuropathies in Southwest of China

Mitochondrion. 2019 May;46:327-333. doi: 10.1016/j.mito.2018.09.002. Epub 2018 Sep 7.


We report the results of molecular screening in 121 patients with suspected hereditary optic neuropathies. The 34 primary and 9 secondary LHON mutations were screened in all the patients. In the familial cases, OPA1 was also tested when negative finding for the mtDNA mutations screening. Molecular defects were identified in 35 patients (28.9% of screened patients). Among these, 33 patients (94.3%) had an mtDNA mutation, including m.11778G > A (69.7%), m.14484 T > C, m.3460G > A, m.3635G > A, m.14502 T > C and three secondary mutations m.3316G > A, m.3394 T > C, m.3497C > T. Two novel OPA1 mutations, c.1301 T > G (p.Leu434Arg) and c.985-1G > A (IVS9-1G > A), were also detected in families with the evidence of father-to-son transmission. In conclusion, we reported the results of the molecular screening of 121 patients with hereditary optic neuropathies from southwest of China. Our results highlight the importance of investigating LHON-causing mtDNA mutations and OPA1 mutations in cases of suspected hereditary optic neuropathy.

PMID:30201499 | DOI:10.1016/j.mito.2018.09.002