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Optom Vis Sci. 2017 Dec;94(12):1090-1094. doi: 10.1097/OPX.0000000000001147.

Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy.

Author information

1
Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.
2
Department of Medical Information, Information Security and Big Data Research Institute, Central South University, Changsha, China.
3
Department of Ophthalmology, the Third Xiangya Hospital, Central South University, Changsha, China.

Abstract

SIGNIFICANCE:

We identified a missense mutation, m.11778G>A (p.R340H), in the mitochondrially encoded NADH dehydrogenase 4 gene (ND4) in eight patients and three asymptomatic carriers, even though the incidence of this has been considered low in Chinese population. These results have implications for the families' genetic counseling and clinical management.

PURPOSE:

Leber hereditary optic neuropathy (LHON OMIM 535000) is one of the most common inherited optic neuropathies. The aim of this study was to identify the genetic cause in two Han Chinese families with LHON.

METHODS:

We used Sanger sequencing to identify the genetic cause of two Han Chinese families from Hunan, China, with LHON.

RESULTS:

The patients in these two families presented with typical LHON, with male patients experiencing more severe phenotypes. A missense mutation, m.11778G>A (p.R340H), in the ND4 gene was identified in eight patients and three asymptomatic carriers, even though the incidence of this has been considered low in Chinese population.

CONCLUSIONS:

Eight of 11 family members (72.7%) manifested some vision loss, which is far higher percentage than reported in other studies. The variant is predicted to be the disease-causing mutation and results in seriously abnormal function of complex I subunits of the mitochondrial respiratory chain. These results have implications for the families' genetic counseling and clinical management and help to develop new LHON target-gene therapy strategies.

PMID:
29116953
DOI:
10.1097/OPX.0000000000001147
[Indexed for MEDLINE]

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