Abstract | OBJECTIVE: METHODS: RESULTS: Clinical evaluation revealed a wide range of severity, age-at-onset and audiometric configuration of hearing impairment in the matrilineal relatives in these families. The penetrance rates of hearing loss in these pedigrees were 17.6%, 50.0%, 66.7%, 31.3% and 23.1%, with an average of 37.7%, when aminoglycoside-induced deafness was included. Sequence analysis of the complete mitochondrial genomes in these pedigrees identified the known 1555A>G mutation and distinct sets of mitochondrial DNA( mtDNA) polymorphisms belonging to Eastern Asian haplogroups D4b2b, B4c1b1, F3, C1 and D5a, respectively. Of these variants, ND1 L89T and CO3 A200T mutations resided at the highly conservative regions. However, there were no functionally significant mutations in tRNAs and rRNAs or secondary known mutations. No hearing loss related GJB2 gene mutation was observed. CONCLUSION: The lack of significant mutation in the ruled out the possible involvement of GJB2 in the phenotypic expression of the 1555A>G mutation in those affected subjects. However, aminoglycosides, mtDNA variations and other nuclear modifier genes may play an important role in the phenotypic manifestation of the 1555A>G mutation in these Chinese families.
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Authors | Ting Zhang, Bo-bei Chen, Jing Zheng, Sha-sha Gong, Chu-qin Zhang, Jian-xin Lv, Min-xin Guan |
Journal | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
(Zhonghua Yi Xue Yi Chuan Xue Za Zhi)
Vol. 28
Issue 4
Pg. 367-73
(Aug 2011)
ISSN: 1003-9406 [Print] China |
PMID | 21811972
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Aminoglycosides
- Connexins
- GJB2 protein, human
- Connexin 26
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Topics |
- Adult
- Amino Acid Sequence
- Aminoglycosides
(adverse effects)
- Animals
- Asian People
(genetics)
- Child
- Child, Preschool
- China
(ethnology)
- Connexin 26
- Connexins
(chemistry, genetics)
- DNA Mutational Analysis
- Ethnicity
(genetics)
- Female
- Hearing Loss, Sensorineural
(chemically induced, genetics)
- Humans
- Inheritance Patterns
(genetics)
- Male
- Molecular Sequence Data
- Mothers
- Pedigree
- Young Adult
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