Several mutations in the GJB2 gene causing KID syndrome are known: p.Gly11Arg, p.Gly12Arg, p.Asn14Tyr, p.Ser17Phe, p.Ala40Val, p.Asp50Asn, and p.Gly54Glu localized in the N-terminus or in the first extracellular domain (Xu and Nicholson 2013). The gene discussed is GJB2; the disease is KID syndrome.