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

Conclusions
Biallelism for NDUFS2 mutations causing severe complex I deficiency has been previously reported to cause Leigh syndrome with optic neuropathy. Our results are consistent with the view that compound heterozygosity for severe and hypomorphic NDUFS2 mutations can cause non-syndromic HON. This observation suggests a direct correlation between the severity of NDUFS2 mutations and that of the disease and further support that there exist a genetic overlap between non-syndromic and syndromic HON due to defective mitochondrial function.

Source: Journal of Medical Genetics - April 24, 2017 Category: Genetics & Stem Cells Authors: Gerber, S., Ding, M. G., Gerard, X., Zwicker, K., Zanlonghi, X., Rio, M., Serre, V., Hanein, S., Munnich, A., Rotig, A., Bianchi, L., Amati-Bonneau, P., Elpeleg, O., Kaplan, J., Brandt, U., Rozet, J.-M. Tags: Genotype-phenotype correlations Source Type: research