MRPS18CP2 alleles and DEFA3absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene |
| |
| Authors: | Ester Ballana,Josep Maria Mercader,Nathan Fischel-Ghodsian,Xavier Estivill |
| |
| Affiliation: | 1.Genes and Disease Program,Centre for Genomic Regulation (CRG),Barcelona,Spain;2.CIBER en Epidemiología y Salud Pública (CIBERESP),Barcelona,Spain;3.Cedars-Sinai Medical Center and David Geffen School of Medicine at UCLA,Los Angeles,USA;4.CeGen, Spanish National Genotyping Centre,Barcelona,Spain;5.Universitat Pompeu Fabra (UPF),Barcelona,Spain |
| |
| Abstract: | Background 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. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
