Siblings with optic neuropathy and RTN4IP1 mutation

Article metrics

Abstract

Inherited optic neuropathies (IONs) are neurodegenerative disorders affecting the optic nerve and the nervous system. Dominant and recessive IONs are known. Many of the dominant IONs are caused by mutations of OPA1. Autosomal-recessive IONs are rare. OPA10 is an autosomal-recessive ION due to mutations in RTN4IP1. Patients with RTN4IP1 mutations show extraocular manifestations. We report brothers with optic neuropathy who had novel mutations in the RTN4IP1 gene. This is the first report of Japanese patients with OPA10. They showed extraocular manifestations resembling mitochondrial encephalopathy.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

Figure 1
Figure 2
Figure 3

References

  1. 1

    Delettre, C., Lenaers, G., Griffoin, J.-M., Gigarel, N., Lorenzo, C., Belenguer, P. et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat. Genet. 26, 207–210 (2000).

  2. 2

    Alexander, C., Votruba, M., Pesch, U. E. A., Thiselton, D. L., Mayer, S., Moore, A. et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat. Genet. 26, 211–215 (2000).

  3. 3

    Reynier, P., Amati-Bonneau, P., Verny, C., Olichon, A., Simard, G., Guichet, A. et al. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J. Med. Genet. 41, e110 (2004).

  4. 4

    Yu-Wai-Man, P., Griffiths, P. G., Gorman, G. S., Lourenco, C. M., Wright, A. F., Auer-Grumbach, M. et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133, 771–786 (2010).

  5. 5

    Hanein, S., Perrault, I., Roche, O., Gerber, S., Khadom, N., Rio, M. et al. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am. J. Hum. Genet. 84, 493–498 (2009).

  6. 6

    Metodiev, M. D., Gerber, S., Hubert, L., Delahodde, A., Chretien, D., Gerard, X. et al. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. J. Med. Genet. 51, 834–838 (2014).

  7. 7

    Angebault, C., Guichet, P.-O., Talmat-Amar, Y., Charif, M., Gerber, S., Fares-Taie, L. et al. Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies. Am. J. Hum. Genet 97, 754–760 (2015).

  8. 8

    Hartmann, B., Wai, T., Hu, H., MacVicar, T., Musante, L., Fischer-Zirnsak, B. et al. Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. Elife 5, e16078 (2016).

  9. 9

    Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K. et al. Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. Mitochondrion 10, 300–308 (2010).

  10. 10

    Okamoto, N., Miya, F., Tsunoda, T., Yanagihara, K., Kato, M., Saitoh, S. et al. KIF1A mutation in a patient with progressive neurodegeneration. J. Hum. Genet. 59, 639–641 (2014).

Download references

Acknowledgements

We thank the family members for their cooperation. This research was supported by the Practical Research Project for Rare/Intractable Diseases from Japan Agency for Medical Research and Development, AMED.

Author information

Correspondence to Nobuhiko Okamoto.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Okamoto, N., Miya, F., Hatsukawa, Y. et al. Siblings with optic neuropathy and RTN4IP1 mutation. J Hum Genet 62, 927–929 (2017) doi:10.1038/jhg.2017.68

Download citation

Further reading