Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.

Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Research Abstract Details 

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Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Abstract Text:

Jianfu Chen,Li Yang,Aifen Yang,Yi Zhu,Jianyue Zhao,Dongmei Sun,Zhihua Tao,Xiaowen Tang,Jindan Wang,Xinjian Wang,Asami Tsushima,Jinshan Lan,Weixing Li,Fangli Wu,Qian Yuan,Jingzhang Ji,Jinbao Feng,Chunli Wu,Zhisu Liao,Zhiyuan Li,John H Greinwald,Jianxin Lu,Min-Xin Guan,

We report here the clinical, genetic and molecular characterization of three Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed the wide range of severity, age-at-onset and audiometric configuration of hearing impairment in matrilineal relatives in these families. The penetrances of hearing loss in these pedigrees were 28%, 20%, and 15%, with an average of 21%, when aminoglycoside-induced deafness was included. When the effect of aminoglycosides was excluded, the penetrances of hearing loss in these seven pedigrees were 21%, 13% and 8%, with an average of 14%. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the presence of the deafness-associated 12S rRNA C1494T mutation, in addition to distinct sets of mtDNA polymorphism belonging to Eastern Asian haplogroups F1a1, F1a1 and D5a2, respectively. This suggested that the C1494T mutation occurred sporadically and multiplied through evolution of the mtDNA. The absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in their mtDNA suggests that these mtDNA haplogroup-specific variants may not play an important role in the phenotypic expression of the C1494T mutation in those Chinese families. In addition, the lack of significant mutation in the GJB2 gene ruled out the possible involvement of GJB2 in the phenotypic expression of the C1494T mutation in those affected subjects. However, aminoglycosides and other nuclear modifier genes play a modifying role in the phenotypic manifestation of the C1494T mutation in these Chinese families.

Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Publishing Authors By Initials

J Chen,L Yang,A Yang,Y Zhu,J Zhao,D Sun,Z Tao,X Tang,J Wang,X Wang,A Tsushima,J Lan,W Li,F Wu,Q Yuan,J Ji,J Feng,C Wu,Z Liao,Z Li,JH Greinwald,J Lu,MX Guan,

For similar nucleic acids, nucleotides, and nucleosides: nucleic acids: rna: rna, ribosomal research abstracts see: nucleic acids, nucleotides, and nucleosides: nucleic acids: rna: rna, ribosomal research

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Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Gene

VOLUME: 401

Page Numbers: 4-11

Journal Abbreviation: Gene

ISSN: 0378-1119

DAY: 20

MONTH: 06

YEAR: 2007

Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 7706761

Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Keywords Mesh Terms:

KEYWORDS: RNA, Ribosomal

MESH TERMS: genetics

Chemical & Substance for Abstract: Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Information

Substance Name: RNA, ribosomal, 12S

Registry Number: 0

Grant and Affiliation Information for Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.

AFFILIATION: Department of Otolaryngology, the First Affiliated Hospital, Wenzhou Medical College, Wenzhou, Zhejiang, China.

Country: Netherlands

AGENCY: United States NINDS

GRANT: R01NS44015

ACRONYM: NS

MEDLINETA: Gene

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