Title |
MRPS18CP2 alleles and DEFA3absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene
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Published in |
BMC Medical Genomics, December 2007
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DOI | 10.1186/1471-2350-8-81 |
Pubmed ID | |
Authors |
Ester Ballana, Josep Maria Mercader, Nathan Fischel-Ghodsian, Xavier Estivill |
Abstract |
Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or nonsyndromic hearing loss in families presenting with extremely variable clinical phenotypes. Biochemical and genetic data have suggested that nuclear background is the main factor involved in modulating the phenotypic expression of mutation A1555G. However, although a major nuclear modifying locus was located on chromosome 8p23.1 and regardless intensive screening of the region, the gene involved has not been identified. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 5% |
Unknown | 18 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 4 | 21% |
Other | 3 | 16% |
Student > Ph. D. Student | 3 | 16% |
Professor > Associate Professor | 2 | 11% |
Student > Doctoral Student | 1 | 5% |
Other | 4 | 21% |
Unknown | 2 | 11% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 5 | 26% |
Agricultural and Biological Sciences | 5 | 26% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 5% |
Business, Management and Accounting | 1 | 5% |
Computer Science | 1 | 5% |
Other | 2 | 11% |
Unknown | 4 | 21% |