Title |
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability
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Published in |
Frontiers in Genetics, October 2015
|
DOI | 10.3389/fgene.2015.00311 |
Pubmed ID | |
Authors |
Majida Charif, Agathe Roubertie, Sara Salime, Sonia Mamouni, Cyril Goizet, Christian P. Hamel, Guy Lenaers |
Abstract |
Dominant optic neuropathies causing fiber loss in the optic nerve are among the most frequent inherited mitochondrial diseases. In most genetically resolved cases, the disease is associated to a mutation in OPA1, which encodes an inner mitochondrial dynamin involved in network fusion, cristae structure and mitochondrial genome maintenance. OPA1 cleavage is regulated by two m-AAA proteases, SPG7 and AFG3L2, which are, respectively involved in Spastic Paraplegia 7 and Spino-Cerebellar Ataxia 28. Here, we identified a novel mutation c.1402C>T in AFG3L2, modifying the arginine 468 in cysteine in an evolutionary highly conserved arginine-finger motif, in a family with optic atrophy and mild intellectual disability. Ophthalmic examinations disclosed a loss of retinal nerve fibers on the temporal and nasal sides of the optic disk and a red-green dyschromatopsia. Thus, our results suggest that neuro-ophthalmological symptom as optic atrophy might be associated with AFG3L2 mutations, and should prompt the screening of this gene in patients with isolated and syndromic inherited optic neuropathies. |
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United States | 1 | 50% |
Unknown | 1 | 50% |
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Scientists | 1 | 50% |
Members of the public | 1 | 50% |
Mendeley readers
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South Africa | 1 | 3% |
Unknown | 37 | 97% |
Demographic breakdown
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Student > Ph. D. Student | 8 | 21% |
Researcher | 5 | 13% |
Student > Postgraduate | 5 | 13% |
Student > Bachelor | 4 | 11% |
Student > Master | 3 | 8% |
Other | 6 | 16% |
Unknown | 7 | 18% |
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Medicine and Dentistry | 6 | 16% |
Neuroscience | 3 | 8% |
Agricultural and Biological Sciences | 3 | 8% |
Nursing and Health Professions | 1 | 3% |
Other | 6 | 16% |
Unknown | 8 | 21% |