Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment"

Biochem Biophys Res Commun. 2006 May 12;343(3):675-6. doi: 10.1016/j.bbrc.2006.03.049. Epub 2006 Mar 20.


Ballana et al. [E. Ballana, E. Morales, R. Rabionet, B. Montserrat, M. Ventayol, O. Bravo, P. Gasparini, X. Estivill, Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment, Biochem. Biophys. Res. Commun. 341 (2006) 950-957] detected a T1291C mutation segregating in a Cuban pedigree with hearing impairment. They interpreted it as probably pathogenic, based on family history, RNA conformation prediction and its absence in a control group of 95 Spanish subjects. We screened a sample of 203 deaf subjects and 300 hearing controls (110 "European-Brazilians" and 190 "African-Brazilians") for the mitochondrial mutations A1555G and T1291C. Five deaf subjects had the T1291C substitution, three isolated cases and two familial cases. In the latter, deafness was paternally inherited or segregated with the A1555G mutation. This doesn't support the hypothesis of T1291C mutation being pathogenic. Two "African-Brazilian" controls also had the T1291C substitution. Six of the seven T1291C-carriers (five deaf and two controls) had mitochondrial DNA of African origin, belonging to macrohaplogroup L1/L2. Therefore, these data point to T1291C substitution as most probably an African non-pathogenic polymorphism.

Publication types

  • Comment

MeSH terms

  • African Continental Ancestry Group / genetics
  • Base Sequence
  • Brazil / ethnology
  • DNA, Mitochondrial / chemistry
  • Deafness / ethnology
  • Deafness / genetics*
  • European Continental Ancestry Group / genetics
  • Genes, Mitochondrial
  • Genes, rRNA
  • Humans
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • Penetrance
  • Point Mutation
  • Polymorphism, Single Nucleotide*
  • RNA, Ribosomal / chemistry
  • RNA, Ribosomal / genetics*
  • Sequence Alignment


  • DNA, Mitochondrial
  • RNA, Ribosomal
  • RNA, ribosomal, 12S