Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss

Hearing loss is a common sensory defect that can significantly impact quality of life. The majority of congenital cases are attributable to genetic factors. To date, more than one hundred deafness genes have been reported. Using whole exome sequencing and linkage analysis, we identified a heterozygous variant, c.296G>A, in IFNLR1 as a strong candidate deafness gene related to autosomal dominant hearing loss in one three-generation Chinese family. This study confirmed expression of the IFNLR1 in mice inner ear and pathogenicity by Morpholino knockdown in zebrafish and proposed that the IFNLR1 mutation may contribute to hearing loss through the Jak1/ STAT3 signaling pathway. (By Xue Gao, http://jmg.bmj.com/content/early/2018/02/16/jmedgenet-2017-104954 )