You don't need to be signed in to read BMJ Blogs, but you can register here to receive updates about other BMJ products and services via our site.

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy

28 Dec, 16 | by hqqu

Hereditary optic neuropathies (HON) are blinding conditions that affect the optic nerve which connects the eye to the brain. Mitochondrial (mt) and nuclear DNA mutations can cause HON. mtDNA mutations in complex I subunits of the respiratory chain cause a bilateral, painless, subacute disease known as Leber HON (LHON). Here, we report for the first time a LHON-like phenotype associated with a nuclear gene, NDUFS2. Consistent with the pathomechanism of LHON, NDUFS2 is required for the assembly of Complex I. Severe NDUFS2 mutations were previously reported to cause Leigh syndrome. Our results suggest milder mutations can cause isolated HON. (By Dr. Jean-Michel ROZET, http://jmg.bmj.com/content/early/2016/12/28/jmedgenet-2016-104212 )

By submitting your comment you agree to adhere to these terms and conditions
You can follow any responses to this entry through the RSS 2.0 feed.
JMG blog homepage

JMG Contact

Research developments and evidence-based medical genetics. Visit site



Creative Comms logo

Latest from Journal of Medical Genetics

Latest from Journal of Medical Genetics