Cosegregation of C-Insertion at Position 961 with the A1555G Mutation of the Mitochondrial 12S rRNA Gene in a Large Chinese Family with Maternally Inherited Hearing Loss

Ronghua Li, Guangqian Xing, Ming Yan, Xing Cao, Xue Zhong Liu, Xingkuan Bu, Min Xin Guan

Research output: Contribution to journalArticle

121 Scopus citations

Abstract

Mutations in the mitochondrial DNA have been shown to be one of the most important causes of sensorineural hearing loss. Here, we report the characterization of a large Chinese family (507 members in six generations) with maternally inherited non-syndromic hearing loss. Members of this family showed variable severity and age-of-onset of hearing impairment. In particular, the average age at onset of hearing loss in this family changed from 49 years (generation III) to 3 years (generation VI). Sequence analysis of the complete mitochondrial genome in this pedigree revealed the presence of a homoplasmic A1555G mutation in the 12S rRNA gene and other nucleotide changes. Of these changes, a C insertion at position 961 in the 12S rRNA gene is of special interest as mutations at this position have been found to be associated with aminoglycoside induced deafness in several genetically unrelated families. These data imply that the C insertion at position 961 in the 12S rRNA gene, acting as a secondary factor, could play a role in the phenotypic expression of the deafness associated A1555G mutation.

Original languageEnglish (US)
Pages (from-to)113-117
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume124 A
Issue number2
StatePublished - Jan 15 2004

Keywords

  • Chinese
  • Haplotype
  • Hearing loss
  • Inherited
  • Mitochondria
  • Mutation
  • Penetrance

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Cosegregation of C-Insertion at Position 961 with the A1555G Mutation of the Mitochondrial 12S rRNA Gene in a Large Chinese Family with Maternally Inherited Hearing Loss'. Together they form a unique fingerprint.

  • Cite this