Surdité et mouvements anormaux péri-oraux chez une femme de 46 ans

Abstract

The IVS7-2A>G (c.919-2A>G) and p.H723R (c.2168A>G) mutations of SLC26A4 gene are recognized as a risk factor for the non-syndromic hearing loss. To elucidate the variable results, a meta-analysis and systematic review was performed from all case–control studies by pooling data on them.The case–control studies were assessed with a modification of the Newcastle-Ottawa Scale (NOS). The strength of association between c.919-2A>G, c.2168A>G and hearing loss risk was measured by odds ratios (ORs) with 95% confidence intervals (CIs).We included 14 case–control studies and 16 case series studies in present study. There was a higher prevalence of the c.919-2A>G mutation in the case group than that in the control group (12.4% vs 0.9%; OR = 13.05, 95% CI: 8.41–20.23, Z = 11.47, P < 0.00001).In conclusion, the results from this meta-analysis suggest that NSHL patients have an increased risk of the c.919-2A>G mutation of SLC26A4 gene in Asians, especially in Chinese.