Review Article

Progress and Prospects in Human Genetic Research into Age-Related Hearing Impairment

Table 1

Recent reports regarding association between ARHI and monogenic forms of hearing impairment.

Genes causing monogenic hearing impairment with phenotypic similarities to ARHI
GenesMonogenic nonsyndromic hearing impairmentAuthorsReferencePublication yearObject region or ancestry of the study subjectsRemarks

GRHL2/TFCP2L3/BOM (OMIM: 608576) DFNA28 van Laer et al.[3]20089 centers in 7 European countriesAuthors have concluded that GRHL2 is an ARHI susceptibility gene.
Lin et al.[4]2011TaiwanNo positive association was found.

KCNQ4 (OMIM: 603537)DFNA2van Eyken et al.[5]2006Netherlands and BelgiumSeveral SNPs in this gene were significantly associated with ARHI.

DFNA5 (OMIM: 608798)DFNA5 van Laer et al.[6]2002Framingham in USA Authors have concluded that no strong association exists between DFNA5 and ARHI.

COCH (OMIM: 603196)DFNA9Fransen et al.[7]2004Belgium and NetherlandsNo significant effect of the SNP for ARHI was found.

GIPC3 (OMIM: 608792)DFNB15/DFNB72/DFNB95Charizopoulou et al.[8]2011Families of Dutch and Indian originA missense mutation of Gipc3 was associated with age-related hearing loss 5 (ahl5) in mice and point mutations of human GIPC3 were found in hearing loss cases segregating in two small human families.
Rehman et al.[9]2011Pakistani familiesAuthors reported seven mutations of GIPC3 associated with mild to profound hearing loss segregating in seven large families.

MYO6 (OMIM: 600970)DFNA22/DFNB37Oonk et al.[10]2013Dutch familyThe audiological findings in the Dutch DFNA22 family supported the hypothesis that the phenotype of the specific MYO6 mutation mimics presbycusis.