scholarly journals Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 1007
Author(s):  
Mouna Habbane ◽  
Laura Llobet ◽  
M. Pilar Bayona-Bafaluy ◽  
José E. Bárcena ◽  
Leticia Ceberio ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Clinical Study ◽  
Genetic Disease ◽  
Nuclear Dna ◽  
Molecular Genetic ◽  
Leigh Syndrome ◽  
12S Rrna ◽  
Mitochondrial 12S Rrna ◽  
Cybrid Cell

Background: Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes. Methods: Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients’ tissues and cybrid cell lines were performed. Results: mitochondrial DNA (mtDNA) m.1555A>G/MT-RNR1 and m.9541T>C/MT-CO3 mutations were found. The first one is a well-known pathologic mutation. However, the second one does not appear to contribute to the high hearing loss penetrance and LS phenotype observed in this family. Conclusion: The m.1555A>G pathological mutation, accompanied with an unknown nuclear DNA (nDNA) factor, could be the cause of the phenotypic manifestations in this pedigree.

Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene

2010 ◽  
Vol 30 (6) ◽  
pp. 405-411 ◽  
Author(s):  
Emna Mkaouar-Rebai ◽  
Nourhene Fendri-Kriaa ◽  
Nacim Louhichi ◽  
Abdelaziz Tlili ◽  
Chahnez Triki ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Genome ◽  
Novel Mutation ◽  
Hot Spot ◽  
12S Rrna ◽  
Rrna Gene ◽  
12S Rrna Gene ◽  
Genome Screening ◽  
Mitochondrial 12S Rrna ◽  
Syndromic Hearing Loss

Sensorineural hearing loss has been described in association with different mitochondrial multisystemic syndromes, often characterized by an important neuromuscular involvement. Until now, mutations in mitochondrial DNA, especially in the 12S rRNA, the tRNASer(UCN) and the tRNALeu(UUR) genes, were implicated in syndromic or non-syndromic hearing loss either as a primary cause or as predisposing factors. In the present study, we performed a whole mitochondrial genome screening in two unrelated Tunisian families with inherited hearing loss. Results showed the presence of a novel mutation in the mitochondrial 12S rRNA gene in the two probands of these two families who belong to two different haplogroups: L3 and H6a1. The m.735A>G mutation affects a conserved nucleotide of the mitochondrial 12S rRNA gene in primates and other species and had a conservation index of 78.5% (11/14). We also detected known polymorphisms and sic novel mitochondrial variants. The present study confirmed that the mitochondrial 12S rRNA gene is a hot spot for mutations associated with hearing impairment.

Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation

2011 ◽  
Vol 131 (9) ◽  
pp. 970-975 ◽  
Author(s):  
Meichao Men ◽  
Lu Jiang ◽  
Honghan Wang ◽  
Yalan Liu ◽  
Zhengmao Hu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Chinese Family ◽  
12S Rrna ◽  
Mitochondrial 12S Rrna

The mitochondrial DNA haplotypes of snails of the estuarine hydrobiid genus Tatea cross species and biogeographic boundaries

2009 ◽  
Vol 60 (8) ◽  
pp. 861 ◽  
Author(s):  
D. J. Colgan ◽  
P. da Costa
Keyword(s):  
Mitochondrial Dna ◽  
Dna Sequences ◽  
Marine Species ◽  
Habitat Diversity ◽  
12S Rrna ◽  
Genetic Structuring ◽  
Dna Variation ◽  
Eastern Australia ◽  
Mitochondrial 12S Rrna ◽  
Marine Littoral

Investigations of estuarine taxa can provide a perspective on phylogeography that complements studies of marine littoral organisms. For example, reductions in gene flow between populations and increased genetic structuring would be expected in estuarine species. The substantial amount of information about marine species and the habitat diversity along long latitudinal spans makes south-eastern Australia an excellent potential location for comparing marine and estuarine taxa. To investigate this potential, we studied the phylogeography of the two species in the estuarine gastropod genus Tatea. These have extensive and broadly overlapping distributions that encompass known marine phylogeographic boundaries. Against expectation, both Tatea species showed a remarkable lack of geographic and inter-specific variability in mitochondrial 12S rRNA (107 specimens) and cytochrome c oxidase subunit I (39) DNA sequences. No major phylogeographic discontinuities were revealed in either species and there was minimal haplotype divergence between them for either 12S rRNA or COI. The patterns of mitochondrial DNA variation discovered in Tatea may be due to a recent selective sweep or range expansion from a population in which there was little variability. Both possibilities are complicated by having to explain the similarity of the patterns in the two species.

A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment

2008 ◽  
Vol 368 (3) ◽  
pp. 631-636 ◽  
Author(s):  
M.R. Chaig ◽  
M.E. Zernotti ◽  
N.W. Soria ◽  
O.F. Romero ◽  
M.F. Romero ◽  
...  
Keyword(s):  
Hearing Loss ◽  
12S Rrna ◽  
Mitochondrial 12S Rrna

Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation

2005 ◽  
Vol 328 (4) ◽  
pp. 1244-1251 ◽  
Author(s):  
Wie-Yen Young ◽  
Lidong Zhao ◽  
Yaping Qian ◽  
Qiuju Wang ◽  
Ning Li ◽  
...  
Keyword(s):  
Hearing Loss ◽  
12S Rrna ◽  
Chinese Families ◽  
A1555g Mutation ◽  
Mitochondrial 12S Rrna

scholarly journals Case Report: m.13513 G>A Mutation in a Chinese Patient With Both Leigh Syndrome and Wolff-Parkinson-White Syndrome

2021 ◽  
Vol 9 ◽  
Author(s):  
Jian-Min Liang ◽  
Cui-Juan Xin ◽  
Guang-Liang Wang ◽  
Xue-Mei Wu
Keyword(s):  
Mitochondrial Dna ◽  
Case Report ◽  
Respiratory Failure ◽  
Developmental Delay ◽  
Nuclear Dna ◽  
Leigh Syndrome ◽  
Chinese Patient ◽  
White Syndrome ◽  
Wpw Syndrome ◽  
Wolff Parkinson White Syndrome

A number of causative mutations in mitochondrial and nuclear DNA have been identified for Leigh syndrome, a neurodegenerative encephalopathy, including m. 8993 T>G, m.8993 T>C, and m.3243A>G mutations in the MTATP6, MTATP6, and MT-TL1 genes, respectively, which have been reported in Leigh syndrome patients in China. The m.13513 G>A mutation has been described only a few times in the literature and not previously reported in China. Here we report the case of a 15-month-old boy who presented with ptosis and developmental delay and was diagnosed with Leigh syndrome and well as Wolff-Parkinson-White (WPW) syndrome. The m.13513 G>A mutation was found in DNA from blood. He was intubated due to respiratory failure and died at 23 months of age. The m.13513 G>A mutation in the ND5 gene of mitochondrial DNA is associated with Leigh syndrome and WPW syndrome; however, this is the first report of this mutation in a patient in China, highlighting the geographical and racial variability of Leigh syndrome.

Spectrum and frequency of mitochondrial 12S rRNA variants in the Chinese subjects with nonsynrdomic hearing loss in Zhejiang Prov-ince

2012 ◽  
Vol 34 (6) ◽  
pp. 695-704 ◽  
Author(s):  
Bin-Jiao ZHENG ◽  
Guang-Hua PENG ◽  
Bo-Bei CHEN ◽  
Fang FANG ◽  
Jing ZHENG ◽  
...  
Keyword(s):  
Hearing Loss ◽  
12S Rrna ◽  
Mitochondrial 12S Rrna ◽  
Chinese Subjects

Mitochondrial 12S rRNA A1555G mutation associated with nonsyn-dromic hearing loss in twenty-five Han Chinese pedigrees

2013 ◽  
Vol 35 (1) ◽  
pp. 62-72 ◽  
Author(s):  
Guang-Hua PENG ◽  
Bin-Jiao ZHENG ◽  
Fang FANG ◽  
Yue WU ◽  
Ling-Zhi LIANG ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Han Chinese ◽  
12S Rrna ◽  
A1555g Mutation ◽  
Mitochondrial 12S Rrna
Sign in / Sign up

Export Citation Format

Share Document