Interestingly, four missense mutations in the gene encoding for CIB2 [p.F91S, p.C99W, p.I123T (Riazuddin et al., 2012) and more recently p. R186W (Patel et al., 2015)] have been found to be associated with non-syndromic deafness (DFNB48) while a single, conservative point mutation (p.E64D) (Riazuddin et al., 2012) has been related to Usher Syndrome type 1J (USH1J, OMIM entry: 614869), a genetic disorder characterized by hearing loss and progressive vision loss due to retinitis pigmentosa. This evidence concerns the gene CIB2 and Usher syndrome type 1.