Only male matrilineal relatives with Leber’s hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation

2005 ◽  
Vol 328 (4) ◽  
pp. 1139-1145 ◽  
Author(s):  
Jia Qu ◽  
Ronghua Li ◽  
Yi Tong ◽  
Yongwu Hu ◽  
Xiangtian Zhou ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Chinese Family ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
G11778a Mutation ◽  
Hereditary Optic Neuropathy

Clinical phenotype and the G11778A mutation of mitochondrial DNA in patients with Leber’s hereditary optic neuropathy in Taiwan

2001 ◽  
Vol 26 (4) ◽  
pp. 207-216
Author(s):  
Chun-Che Chu ◽  
Chin-Chang Huang ◽  
Ling-Yuh Kao ◽  
Hung-Chou Kuo ◽  
Tzu-Ning Yu ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Clinical Phenotype ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
G11778a Mutation ◽  
Hereditary Optic Neuropathy

scholarly journals Mitochondrial 13513G>A Mutation With Low Mutant Load Presenting as Isolated Leber's Hereditary Optic Neuropathy Assessed by Next Generation Sequencing

2021 ◽  
Vol 12 ◽  
Author(s):  
Chuan-bin Sun ◽  
Hai-xia Bai ◽  
Dan-ni Xu ◽  
Qing Xiao ◽  
Zhe Liu
Keyword(s):  
Mitochondrial Dna ◽  
Next Generation Sequencing ◽  
Optic Neuropathy ◽  
Chinese Family ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Next Generation ◽  
Mt Dna ◽  
Generation Sequencing ◽  
Hereditary Optic Neuropathy

Objective: Mitochondrial 13513G>A mutation presenting as isolated Leber's hereditary optic neuropathy (LHON) without any extraocular pathology has not been reported in literature. We herein evaluate the clinical characteristics and heteroplasmy of m.13513G>A mutation manifesting as isolated LHON.Methods: Seven members of a Chinese family were enrolled in this study. All subjects underwent detailed systemic and ophthalmic examinations. Mitochondrial DNA in their blood was assessed by targeted PCR amplifications, next generation sequencing (NGS), and pyrosequencing. One hundred of blood samples from ethnic-matched healthy volunteers were tested by NGS and pyrosequencing as normal controls.Results: Isolated LHON without any other ocular or extraocular pathology was identified in a 16 year old patient in this family. Heteroplasmic m.13513G>A mutation was detected by NGS of the full mtDNA genome in the patient with mutant load of 33.56%, and of 26% 3 months and 3 years after the onset of LHON, respectively. No m.13513G>A mutation was detected in all his relatives by NGS. Pyrosequencing revealed the mutant load of m.13513G>A mutation of the LHON patient, his mother, father and sister were 22.4, 1.9, 0, and 0%, respectively. None of 100 healthy control subjects was detected to harbor m.13513G>A mutation either by NGS or by pyrosequencing of the full mt DNA genome.Conclusions: We first report m.13513G>A mutation with low mutant load presenting as isolated LHON. NGS of the full mitochondrial DNA genome is highly recommended for LHON suspects when targeted PCR amplification for main primary point mutations of LHON was negative.

Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans

2003 ◽  
Vol 250 (3) ◽  
pp. 278-281 ◽  
Author(s):  
Ji Yeon Kim ◽  
Jeong-Min Hwang ◽  
Bong-Leen Chang ◽  
Sung Sup Park
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations ◽  
Hereditary Optic Neuropathy

Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma

2001 ◽  
Vol 239 (6) ◽  
pp. 437-440 ◽  
Author(s):  
Danielle Opial ◽  
Matthias Boehnke ◽  
Saba Tadesse ◽  
Andrea Lietz-Partzsch ◽  
Josef Flammer ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Normal Tension Glaucoma ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations ◽  
Hereditary Optic Neuropathy

Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy

1990 ◽  
Vol 170 (3) ◽  
pp. 994-997 ◽  
Author(s):  
P.A. Bolhuis ◽  
E.M. Bleeker-Wagemakers ◽  
N.J. Ponne ◽  
M.J. Van Schooneveld ◽  
A. Westerveld ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Human Mitochondrial Dna ◽  
Rapid Shift ◽  
Hereditary Optic Neuropathy
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