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NovelOPA1missense mutation in a family with optic atrophy and severe widespread neurological disorder

Liskova, Petra, Ulmanova, Olga, Tesina, Petr, Melsova, Hana, Diblik, Pavel, Hansikova, Hana, Tesarova, Marketa and Votruba, Marcela ORCID: 2013. NovelOPA1missense mutation in a family with optic atrophy and severe widespread neurological disorder. Acta Ophthalmologica 91 (3) , pp. 225-231. 10.1111/aos.12038

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Purpose:  To identify the underlying molecular genetic cause in a Czech family with optic atrophy, deafness, ptosis, ophthalmoplegia, polyneuropathy and ataxia transmitted as an autosomal dominant trait. Methods:  Ophthalmological and neurological examination followed by molecular genetic analyses. Results:  Seven family members were clinically affected. There was a variable but progressive visual, hearing and neurological disability across the family as a whole. The majority of subjects presented with impairment of visual function and a variable degree of ptosis and/or ophthalmoplegia from the first to the third decade of life. Deafness, neuropathy and ataxia appeared later, in the third and fourth decade. Migraine, tachycardia, intention tremor, nystagmus and cervical dystonia were observed in isolated individuals. A significant overall feature was the high level of neurological disability leading to 3 of 4 members being unable to walk or stand unaided before the age of 60 years. A novel missense mutation c.1345A>C (p.Thr449Pro) in OPA1 segregating with the disease phenotype over three generations was detected. In silico analysis supported pathogenicity of the identified sequence variant. Conclusion:  Our work expands the spectrum of mutation in OPA1, which may lead to severe multisystem neurological disorder. The molecular genetic cause of dominant optic atrophy in the Czech population is reported for the first time. We propose that regular cardiac follow-up in patients diagnosed with dominant optic atrophy and widespread neurological disease should be considered.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Optometry and Vision Sciences
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
R Medicine > RE Ophthalmology
Uncontrolled Keywords: ataxia;autosomal dominant;deafness;encephalomyopathy;novel mutation; OPA1; ophthalmoplegia; optic atrophy; polyneuropathy; ptosis
Publisher: Wiley-Blackwell
ISSN: 1755-375X
Last Modified: 24 Oct 2022 10:17

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