The GJA1 gene has been associated with oculodentodigital dysplasia [35], autosomal recessive craniometaphyseal dysplasia [36], and heart malformations [37], and may also play a role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph and in cell growth inhibition [38]. This evidence concerns the gene GJA1 and craniometaphyseal dysplasia, autosomal recessive.