Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report

Qingdan Xu; Ping Sun; Chaoyi Feng; Qian Chen; Xinghuai Sun; Xinghuai Sun; Xinghuai Sun; Yuhong Chen; Yuhong Chen; Guohong Tian; Guohong Tian

doi:10.3389/fmed.2022.912103

Frontiers in Medicine (Jul 2022)

Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report

Qingdan Xu,
Ping Sun,
Chaoyi Feng,
Qian Chen,
Xinghuai Sun,
Xinghuai Sun,
Xinghuai Sun,
Yuhong Chen,
Yuhong Chen,
Guohong Tian,
Guohong Tian

Affiliations

Qingdan Xu: Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China
Ping Sun: Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China
Chaoyi Feng: NHC Key Laboratory of Myopia, Chinese Academy of Medical Sciences, and Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China
Qian Chen: NHC Key Laboratory of Myopia, Chinese Academy of Medical Sciences, and Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China
Xinghuai Sun: Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China
Xinghuai Sun: NHC Key Laboratory of Myopia, Chinese Academy of Medical Sciences, and Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China
Xinghuai Sun: State Key Laboratory of Medical Neurobiology, Institute of Brain Science, Fudan University, Shanghai, China
Yuhong Chen: Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China
Yuhong Chen: NHC Key Laboratory of Myopia, Chinese Academy of Medical Sciences, and Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China
Guohong Tian: Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China
Guohong Tian: NHC Key Laboratory of Myopia, Chinese Academy of Medical Sciences, and Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai, China

DOI: https://doi.org/10.3389/fmed.2022.912103
Journal volume & issue: Vol. 9

Abstract

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The T12811C mitochondrial DNA (mtDNA) mutation has been reported in Leber hereditary optic neuropathy (LHON) previously, with vision loss as the main manifestation. The involvement of other organ systems, including the central and peripheral nervous system, heart, and extraocular muscles, has not been well described. This case series report investigated four patients with T12811C mtDNA mutation, verified through a next generation sequencing. Two male patients presented with bilateral subacute visual decrease combined with involvement of multiple organ systems: leukoencephalopathy, hypertrophic cardiomyopathy, neurosensory deafness, spinal cord lesion and peripheral neuropathies. Two female patients presented with progressive ptosis and ophthalmoplegia, one of whom also manifested optic atrophy. This study found out that patients harboring T12811C mtDNA mutation manifested not only as vision loss, but also as a multi-system disorder affecting the nervous system, heart, and extraocular muscles.

Published in Frontiers in Medicine

ISSN: 2296-858X (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Medicine (General)
Website: http://www.frontiersin.org/journals/medicine

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