Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness

Biochemical and Biophysical Research Communications
Pu DaiMin-Xin Guan

Abstract

Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here the clinical, genetic, and molecular characterization of 16 Chinese pedigrees (a total of 246 matrilineal relatives) with aminoglycoside-induced impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects, although these subjects share some common features: being bilateral and sensorineural hearing impairment. Strikingly, these Chinese pedigrees exhibited extremely low penetrance of hearing loss, ranging from 4% to 18%, with an average of 8%. In particular, nineteen of 246 matrilineal relatives in these pedigrees had aminoglycoside-induced hearing loss. Mutational analysis of the mtDNA in these pedigrees showed the presence of homoplasmic 12S rRNA A1555G mutation, which has been associated with hearing impairment in many families worldwide. The extremely low penetrance of hearing loss in these Chinese families carrying the A1555G mutation strongly supports the notion that the A1555G mutation itself is not sufficient to produce the clinical phenotype. Children carrying the A1555G mutation are susceptible to the exposure of aminoglyc...Continue Reading

References

Jan 3, 2007·Cell Research·Guangqian XingXin Cao
Oct 20, 2007·BMJ : British Medical Journal·Maria Bitner-Glindzicz, Shamima Rahman
Apr 16, 2009·Journal of Translational Medicine·Pu DaiLee-Jun C Wong
Feb 13, 2007·Biochemical and Biophysical Research Communications·Vittoria PetruzzellaFilippo M Santorelli
Nov 11, 2015·The American Journal of Pathology·Sharen E McKayGerald S Shadel
May 11, 2007·Clinical Genetics·H KokotasP J Willems
Jun 22, 2013·Pediatric Blood & Cancer·Kenneth S ChenNaomi J Winick
Jul 31, 2007·Biochemical and Biophysical Research Communications·Longjin JinMin-Xin Guan
Aug 1, 2006·Biochemical and Biophysical Research Communications·Pu DaiMin-Xin Guan
Nov 8, 2014·Acta Oto-laryngologica·Yuhua ZhuPu Dai
May 12, 2015·International Journal of Pediatric Otorhinolaryngology·Shasha HuangPu Dai
Aug 18, 2012·Clinica Chimica Acta; International Journal of Clinical Chemistry·Xiaoming WeiXin Yi
Sep 23, 2016·Pharmacogenetics and Genomics·Julia M BarbarinoTeri E Klein

Citations

Feb 1, 1991·Journal of Medical Genetics·D N HuH Wong
Apr 9, 1981·Nature·S AndersonI G Young
Nov 1, 1993·American Journal of Otolaryngology·N Fischel-GhodsianS Oztas
Aug 1, 2000·Human Molecular Genetics·M X GuanG Attardi
May 6, 2004·Annals of the New York Academy of Sciences·Min-Xin Guan
Feb 15, 2005·Biochemical and Biophysical Research Communications·Wie-Yen YoungMin-Xin Guan

Related Concepts

Aminoglycoside [EPC]
RNA, mitochondrial
Aminoglycosides
DNA, Mitochondrial
Genetic Screening Method
Sensorineural Hearing Loss (Disorder)
Digests
Genetic Pedigree
Mitochondria
RNA, ribosomal, 12S

Related Feeds

Aminoglycosides

Aminoglycoside is a medicinal and bacteriologic category of traditional Gram-negative antibacterial medications that inhibit protein synthesis and contain as a portion of the molecule an amino-modified glycoside. Discover the latest research on aminoglycoside here.

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Aminoglycosides (ASM)

Aminoglycoside is a medicinal and bacteriologic category of traditional Gram-negative antibacterial medications that inhibit protein synthesis and contain as a portion of the molecule an amino-modified glycoside. Discover the latest research on aminoglycoside here.