NDLI: Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy

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Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy

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Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy

Content Provider	Springer Nature Link
Author	Yu, Dandan Jia, Xiaoyun Zhang, A Mei Guo, Xiangming Zhang, Ya Ping Zhang, Qingjiong Yao, Yong Gang
Copyright Year	2010
Abstract	The primary mutation m.3460G>A occurs with a very low frequency (∼1%) in Chinese patients with Leber hereditary optic neuropathy (LHON). Up to now, there is no comprehensive study of Chinese patients harboring this mutation. We characterized six unrelated probands with m.3460G>A in this study, which were identified from 1,626 patients with LHON or suspected with LHON. The overall penetrance of LHON (25.6% [10/39]) in four pedigrees with m.3460G>A was substantially lower than those families with m.11778G>A (33.3% [619/1859]) as reported in our previous study. Intriguingly, family Le688 with a heteroplasmic m.3460G>A presented a lower penetrance (12.5%) than the other three families with a homoplasmic mutation. There is an elevated gender bias (affected male to affected female = 4:1) in the four families with m.3460G>A compared to those LHON families with m.11778G>A (2.4:1). Complete mtDNA sequencing indicated that the six matrilines belonged to haplogroups B4d1, F2, A5b, M12a, D4b2b, and D4b2, respectively. We did not identify any potential secondary mutation(s) that will affect or be associated with the penetrance of LHON in the six probands by using an evolutionary analysis and protein secondary-structure prediction. Taken together, our results suggested that the m.3460G>A mutation occurred multiple times in Chinese LHON patients. The heteroplasmic status of mutation m.3460G>A might influence the penetrance of LHON in family Le688.
Starting Page	349
Ending Page	356
Page Count	8
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	11
Issue Number	3
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2010-03-16
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	LHON m.3460G>A Chinese Phylogenetic analysis Multiple origins Neurosciences Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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Leber hereditary optic neuropathy: clinical and molecular genetic findings

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia

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Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy