A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial deafness

M. Crimi, S. Galbiati, M. P. Perini, A. Bordoni, G. Malferrari, M. Sciacco, I. Biunno, S. Strazzer, M. Moggio, N. Bresolin, G. P. Comi

Research output: Contribution to journalArticlepeer-review

Abstract

We have identified a heteroplasmic G to A mutation at position 12,183 of the mitochondrial transfer RNA Histidine (tRNAHis) gene in three related patients. These phenotypes varied according to mutation heteroplasmy: one had severe pigmentary retinopathy, neurosensorial deafness, testicular dysfunction, muscle hypotrophy, and ataxia; the other two had only retinal and inner ear involvement. The mutation is in a highly conserved region of the TψC stem of the tRNAHis gene and may alter secondary structure formation. This is the first described pathogenic, maternally inherited mutation of the mitochondrial tRNAHis gene.

Original languageEnglish
Pages (from-to)1200-1203
Number of pages4
JournalNeurology
Volume60
Issue number7
Publication statusPublished - Apr 8 2003

ASJC Scopus subject areas

  • Neuroscience(all)

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