scholarly journals Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene

2006 ◽  
Vol 43 (11) ◽  
pp. e54-e54 ◽  
Author(s):  
M Rodriguez-Ballesteros ◽  
M Olarte ◽  
L A Aguirre ◽  
F Galan ◽  
R Galan ◽  
...  
Keyword(s):  
Hearing Loss ◽  
12S Rrna ◽  
Rrna Gene ◽  
12S Rrna Gene ◽  
Mitochondrial 12S Rrna ◽  
Syndromic Hearing Loss

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.

New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss

2008 ◽  
Vol 369 (3) ◽  
pp. 849-852 ◽  
Author(s):  
Emna Mkaouar-Rebai ◽  
Abdelaziz Tlili ◽  
Saber Masmoudi ◽  
Ilhem Charfeddine ◽  
Faiza Fakhfakh
Keyword(s):  
Hearing Loss ◽  
Restriction Site ◽  
12S Rrna ◽  
Rrna Gene ◽  
12S Rrna Gene ◽  
Tunisian Patients ◽  
Syndromic Hearing Loss

Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss

2010 ◽  
Vol 395 (1) ◽  
pp. 116-121 ◽  
Author(s):  
Małgorzata Rydzanicz ◽  
Maciej Wróbel ◽  
Agnieszka Pollak ◽  
Wojciec Gawęcki ◽  
Damian Brauze ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mutation Analysis ◽  
12S Rrna ◽  
Rrna Gene ◽  
12S Rrna Gene ◽  
Mitochondrial 12S Rrna
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