The mitochondrial transfer RNAAsp A7551G mutation may contribute to the clinical expression of deafness associated with the A1555G mutation in a pedigree with hearing impairment.

Authors: Zhang J, Lu B, Xia WW, Fang B, Ding XX, Hu GW Abstract The role of mitochondrial (mt)DNA variations in hearing loss have been studied extensively; in particular, the well‑known pathogenic A1555G mutation in the human mitochondrial 12S ribosomal RNA gene is associated with aminoglycoside‑induced and non‑syndromic hearing loss. The present paper described a Chinese pedigree with hearing impairments. We first performed polymerase chain reaction and direct sequence analysis for the mtDNA genes. Additionally, the GJB2 gene mutations were also genotyped. Notably, this family had a very high penetrance of deafness (66.7 and 33.3%; including and excluding aminoglycoside use, respectively). Sequence analysis of the mtDNA genes from the matrilineal relatives identified the occ...

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from #Head and Neck by Sfakianakis via simeraentaxei on Inoreader http://bit.ly/2F11I0q